Is CD151 p.Ala145Thr (c.433G>A) pathogenic?

CD151 p.Ala145Thr (c.433G>A) is classified Uncertain significance in CD151 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-10-14). AlphaMissense: likely pathogenic (0.6273); Ultra-rare (popmax 0.0571%, sas); Associated with Inborn genetic diseases.

What condition is associated with CD151 p.Ala145Thr (c.433G>A)?

CD151 p.Ala145Thr (c.433G>A) is associated with Inborn genetic diseases, epidermolysis bullosa simplex 7, with nephropathy and deafness (ClinVar).

How common is CD151 p.Ala145Thr (c.433G>A) in the general population?

CD151 p.Ala145Thr (c.433G>A) is ultra-rare (popmax 0.0571%, sas) (gnomAD).

What do computational predictors say about CD151 p.Ala145Thr (c.433G>A)?

AlphaMissense predicts likely pathogenic (score 0.6273) — an in-silico prediction, not a clinical call.

CD151 p.Ala145Thr

c.433G>A · rs560834839 · VCV2149834

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

AlphaMissense

likely pathogenic

0.6273 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.0571%, sas)

Missense predictors

2/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.6273	likely pathogenic
REVEL	0.704	pathogenic-leaning
SaProt	LLR -9.90	tolerated
⇒ AlphaMissense and REVEL call this damaging; SaProt does not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 11	GERP 0.43, phastCons 1
Regional constraint	o/e 0.94	unconstrained · MANE · 2,119 bp · p 0.3 · regional, not allelic
Overall
CADD	24.9	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

Grpmax group 0.0571% South Asian · 52/91,080 alleles

Filtering AF 0.0447% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0403%

Overall 0.00459% 74/1,612,854 alleles · ultra-rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.0571%	1,752
Remaining individualsnot grpmax-eligible	0.0096%	10,412
East Asian	0.00223%	44,870
European (non-Finnish)	0.00127%	78,660

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.Ala145Thr
Coding: c.433G>A
MANE Select: NM_004357
dbSNP: rs560834839
Type: single nucleotide variant
Location: chr11:837331 (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

Disease context

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

Also linked: epidermolysis bullosa simplex 7, with nephropathy and deafness

Similar variants

CD151 p.Ala145Asp Uncertain significance ★ ⚠ same residue
CD151 p.Lys7Ter Pathogenic ★★ same condition
CD151 c.352-11C>G Uncertain significance ★★ same condition
CD151 c.702+4A>G Uncertain significance ★★ same condition
CD151 c.702+5G>C Uncertain significance ★★ same condition
CD151 p.Ala81Thr Uncertain significance ★★ ⚠ same condition
CD151 p.Arg133Cys Uncertain significance ★★ ⚠ same condition
CD151 p.Arg165Gln 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/cd151-p-ala145thr (accessed [today's date]).

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