Is CD151 p.Leu51Val (c.151C>G) pathogenic?

CD151 p.Leu51Val (c.151C>G) is classified Uncertain significance in CD151 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-01-03). AlphaMissense: ambiguous (0.3862); Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with CD151 p.Leu51Val (c.151C>G)?

CD151 p.Leu51Val (c.151C>G) is associated with Inborn genetic diseases (ClinVar).

How common is CD151 p.Leu51Val (c.151C>G) in the general population?

CD151 p.Leu51Val (c.151C>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about CD151 p.Leu51Val (c.151C>G)?

AlphaMissense predicts ambiguous (score 0.3862) — an in-silico prediction, not a clinical call.

CD151 p.Leu51Val

c.151C>G · VCV3829356

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.3862 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/2 damaging

REVEL, SaProt · AlphaMissense no call

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.3862	ambiguous
REVEL	0.18	moderately benign-leaning
SaProt	LLR -8.85	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 1.7	GERP -3.6, phastCons 1
Regional constraint	o/e 0.94	unconstrained · MANE · 2,119 bp · p 0.3 · regional, not allelic
Overall
CADD	17.73	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: CD151
Protein: p.Leu51Val
Coding: c.151C>G
MANE Select: NM_004357
Type: single nucleotide variant
Location: chr11:836317 (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

Similar variants

CD151 p.Leu51= Likely benign ★ same residue
CD151 p.Ala145Thr Uncertain significance ★★ ⚠ same condition
CD151 p.Arg86His Uncertain significance ★★ ⚠ same condition
CD151 p.Arg91Cys Uncertain significance ★★ ⚠ same condition
CD151 p.Asp147Asn Uncertain significance ★★ ⚠ same condition
CD151 p.Gly55Asp Uncertain significance ★★ ⚠ same condition
CD151 p.His139Tyr Uncertain significance ★★ ⚠ same condition
CD151 p.Ile49Val 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-leu51val (accessed [today's date]).

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