Is CFAP44 p.Ile391Val (c.1171A>G) pathogenic?

CFAP44 p.Ile391Val (c.1171A>G) is classified Uncertain significance in CFAP44 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-03-20). AlphaMissense: likely benign (0.1057); Very rare (popmax 0.00682%, nfe); Associated with Inborn genetic diseases.

What condition is associated with CFAP44 p.Ile391Val (c.1171A>G)?

CFAP44 p.Ile391Val (c.1171A>G) is associated with Inborn genetic diseases (ClinVar).

How common is CFAP44 p.Ile391Val (c.1171A>G) in the general population?

CFAP44 p.Ile391Val (c.1171A>G) is very rare (popmax 0.00682%, nfe) (gnomAD).

What do computational predictors say about CFAP44 p.Ile391Val (c.1171A>G)?

AlphaMissense predicts likely benign (score 0.1057) — an in-silico prediction, not a clinical call.

CFAP44 p.Ile391Val

c.1171A>G · rs140218323 · VCV2390380

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1057 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.00682%, nfe)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.1057	likely benign
REVEL	0.07	moderately benign-leaning
SaProt	LLR -5.72	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7.9	GERP 2.1, phastCons 1
Regional constraint	o/e 0.93	unconstrained · MANE · 129 kb · p 0.0018 · regional, not allelic
Overall
CADD	17.39	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00682% European (non-Finnish) · 80/1,172,760 alleles

Filtering AF 0.00558% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00517%

Overall 0.00539% 86/1,594,894 alleles · very rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.00682%	14,659
African / African-American	0.00543%	18,418
Admixed American	0.0036%	27,758

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: CFAP44
Protein: p.Ile391Val
Coding: c.1171A>G
MANE Select: NM_001164496
dbSNP: rs140218323
Type: single nucleotide variant
Location: chr3:113401739 (GRCh38)
Gene constraint: LOEUF 0.697 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 74.87 · 1 PDB

Full CFAP44 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CFAP44 p.Ile391Met Uncertain significance ★ ⚠ same residue
CFAP44 p.Ala161Gly Uncertain significance ★ ⚠ same condition
CFAP44 p.Ala712Val Uncertain significance ★ ⚠ same condition
CFAP44 p.Arg495Gln Uncertain significance ★ ⚠ same condition
CFAP44 p.Arg522Gln Uncertain significance ★ ⚠ same condition
CFAP44 p.Arg557Gln Uncertain significance ★ ⚠ same condition
CFAP44 p.Arg585Cys Uncertain significance ★ ⚠ same condition
CFAP44 p.Arg606Met Uncertain significance ★ ⚠ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cfap44-p-ile391val (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown