Is CD151 p.Gly229Ser (c.685G>A) pathogenic?

CD151 p.Gly229Ser (c.685G>A) is classified Uncertain significance in CD151 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-05-26). AlphaMissense: likely benign (0.205); Rare (popmax 0.263%, eas).

How common is CD151 p.Gly229Ser (c.685G>A) in the general population?

CD151 p.Gly229Ser (c.685G>A) is rare (popmax 0.263%, eas) (gnomAD).

What do computational predictors say about CD151 p.Gly229Ser (c.685G>A)?

AlphaMissense predicts likely benign (score 0.205) — an in-silico prediction, not a clinical call.

CD151 p.Gly229Ser

c.685G>A · rs201597386 · VCV2071235

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.205 · ACMG-weighted

gnomAD v4.1

Rare

rare (popmax 0.263%, eas)

Missense predictors

0/2 damaging

AlphaMissense, SaProt · REVEL no call

Computational evidence

Protein change
AlphaMissense	0.205	likely benign
REVEL	0.585	indeterminate
SaProt	LLR -9.23	tolerated
⇒ AlphaMissense and SaProt both call this tolerated; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 12	GERP 2.2, phastCons 1
Regional constraint	o/e 0.94	unconstrained · MANE · 2,119 bp · p 0.3 · regional, not allelic
Overall
CADD	29.1	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 0.263% East Asian · 118/44,866 alleles

Filtering AF 0.224% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.21%

Overall 0.0118% 190/1,613,330 alleles · rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.263%	380
Remaining individualsnot grpmax-eligible	0.0112%	8,925
European (non-Finnish)	0.00526%	19,028
Ashkenazi Jewishnot grpmax-eligible	0.00338%	29,582
African / African-American	0.00266%	37,530

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: CD151
Protein: p.Gly229Ser
Coding: c.685G>A
MANE Select: NM_004357
dbSNP: rs201597386
Type: single nucleotide variant
Location: chr11:838011 (GRCh38)
Gene constraint: LOEUF 0.816 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 88.02

Full CD151 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CD151 p.Gly229= Benign ★ same residue
CD151 p.Lys7Ter Pathogenic ★★ same type
CD151 c.352-11C>G Uncertain significance ★★ same type
CD151 c.702+4A>G Uncertain significance ★★ same type
CD151 c.702+5G>C Uncertain significance ★★ same type
CD151 p.Ala145Thr Uncertain significance ★★ ⚠ same type
CD151 p.Ala81Thr Uncertain significance ★★ ⚠ same type
CD151 p.Arg133Cys 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/cd151-p-gly229ser (accessed [today's date]).

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