Is CFAP52 p.Arg468Ser (c.1404G>T) pathogenic?

CFAP52 p.Arg468Ser (c.1404G>T) is classified Uncertain significance in CFAP52 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-04-12). AlphaMissense: ambiguous (0.3596); Absent from gnomAD v4.1; Associated with situs inversus.

What condition is associated with CFAP52 p.Arg468Ser (c.1404G>T)?

CFAP52 p.Arg468Ser (c.1404G>T) is associated with situs inversus (ClinVar).

How common is CFAP52 p.Arg468Ser (c.1404G>T) in the general population?

CFAP52 p.Arg468Ser (c.1404G>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about CFAP52 p.Arg468Ser (c.1404G>T)?

AlphaMissense predicts ambiguous (score 0.3596) — an in-silico prediction, not a clinical call.

CFAP52 p.Arg468Ser

c.1404G>T · rs775063335 · VCV581962

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.3596 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/2 damaging

REVEL, SaProt · AlphaMissense no call

Conditions

situs inversus

Computational evidence

Protein change
AlphaMissense	0.3596	ambiguous
REVEL	0.186	benign-leaning
SaProt	LLR -8.64	tolerated
⇒ REVEL and SaProt both call this tolerated; AlphaMissense makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 3.3	GERP -0.44, phastCons 1
Regional constraint	o/e 1.00	unconstrained · MANE · 66 kb · p 0.9 · regional, not allelic
Overall
CADD	23.1	PHRED · no single calibrated threshold — expert panels disagree

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

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: CFAP52
Protein: p.Arg468Ser
Coding: c.1404G>T
MANE Select: NM_145054
dbSNP: rs775063335
Type: single nucleotide variant
Location: chr17:9635488 (GRCh38)
Gene constraint: LOEUF 1.022 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 93.59 · 2 PDB

Full CFAP52 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

situs inversus — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CFAP52 p.Ala147Thr Uncertain significance ★★ ⚠ same condition
CFAP52 p.Ala161Asp Uncertain significance ★★ ⚠ same condition
CFAP52 p.Arg170Gln Uncertain significance ★★ ⚠ same condition
CFAP52 p.Arg594Cys Uncertain significance ★★ ⚠ same condition
CFAP52 p.Gly343Ser Uncertain significance ★★ ⚠ same condition
CFAP52 p.Gly534Ala Uncertain significance ★★ same condition
CFAP52 p.Met551Thr Uncertain significance ★★ ⚠ same condition
CFAP52 p.Tyr41His 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/cfap52-p-arg468ser (accessed [today's date]).

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