Is CD151 p.Leu110Phe (c.328C>T) pathogenic?

CD151 p.Leu110Phe (c.328C>T) is classified Uncertain significance in CD151 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-07-19). AlphaMissense: ambiguous (0.3925); Very rare (popmax 0.00254%, nfe).

How common is CD151 p.Leu110Phe (c.328C>T) in the general population?

CD151 p.Leu110Phe (c.328C>T) is very rare (popmax 0.00254%, nfe) (gnomAD).

What do computational predictors say about CD151 p.Leu110Phe (c.328C>T)?

AlphaMissense predicts ambiguous (score 0.3925) — an in-silico prediction, not a clinical call.

CD151 p.Leu110Phe

c.328C>T · rs146079952 · VCV2972538

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.3925 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.00254%, nfe)

Computational evidence

Protein change
AlphaMissense	0.3925	ambiguous
REVEL	0.624	indeterminate
SaProt	LLR -9.55	tolerated
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.6	GERP 1, phastCons 1
Regional constraint	o/e 0.94	unconstrained · MANE · 2,119 bp · p 0.3 · regional, not allelic
Overall
CADD	23.4	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 0.00254% European (non-Finnish) · 30/1,179,924 alleles

Filtering AF 0.0018% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00156%

Overall 0.00186% 30/1,612,618 alleles · very rare

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.Leu110Phe
Coding: c.328C>T
MANE Select: NM_004357
dbSNP: rs146079952
Type: single nucleotide variant
Location: chr11:836820 (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.Leu110Val Uncertain significance ★★ ⚠ same residue
CD151 p.Leu110= Likely 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

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-leu110phe (accessed [today's date]).

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