Is CFAP36 p.Glu8Asp (c.24G>C) pathogenic?

CFAP36 p.Glu8Asp (c.24G>C) is classified Uncertain significance in CFAP36 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-03-08). AlphaMissense: likely benign (0.0717); Rare (popmax 0.149%, mid).

How common is CFAP36 p.Glu8Asp (c.24G>C) in the general population?

CFAP36 p.Glu8Asp (c.24G>C) is rare (popmax 0.149%, mid) (gnomAD).

What do computational predictors say about CFAP36 p.Glu8Asp (c.24G>C)?

AlphaMissense predicts likely benign (score 0.0717) — an in-silico prediction, not a clinical call.

CFAP36 p.Glu8Asp

c.24G>C · VCV3832279

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0717 · ACMG-weighted

gnomAD v4.1

Rare

rare (popmax 0.149%, mid)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0717	likely benign
REVEL	0.107	moderately benign-leaning
SaProt	LLR -6.39	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 2.1	GERP 1.4, phastCons 1
Regional constraint	o/e 1.03	unconstrained · MANE · 25 kb · p 0.59 · regional, not allelic
Overall
CADD	15.82	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 0.149% Middle Eastern · 9/6,060 alleles

Filtering AF 0.0774% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0578%

Overall 0.00539% 87/1,614,276 alleles · rare

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.149%	673
South Asian	0.0417%	2,397
Ashkenazi Jewishnot grpmax-eligible	0.0236%	4,229
Remaining individualsnot grpmax-eligible	0.016%	6,251
Admixed American	0.00333%	30,018
European (non-Finnish)	0.00178%	56,193

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: CFAP36
Protein: p.Glu8Asp
Coding: c.24G>C
MANE Select: NM_080667
Type: single nucleotide variant
Location: chr2:55519825 (GRCh38)
Gene constraint: LOEUF 0.867 · pLI 0.01 (gnomAD)
Structure: AlphaFold pLDDT 73.92

Full CFAP36 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CFAP36 p.Ala332Thr Uncertain significance ★ ⚠ same type
CFAP36 p.Arg126Gln Uncertain significance ★ ⚠ same type
CFAP36 p.Arg176Thr Uncertain significance ★ ⚠ same type
CFAP36 p.Arg21Pro Uncertain significance ★ ⚠ same type
CFAP36 p.Arg280Thr Uncertain significance ★ ⚠ same type
CFAP36 p.Arg328Lys Uncertain significance ★ ⚠ same type
CFAP36 p.Asn132Ser Uncertain significance ★ ⚠ same type
CFAP36 p.Asp144Asn Uncertain significance ★ ⚠ same type

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/cfap36-p-glu8asp (accessed [today's date]).

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