Is YAP1 p.Ala50= (c.150C>T) pathogenic?

YAP1 p.Ala50= (c.150C>T) is classified Likely benign in YAP1 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-07-02). Very rare (popmax 0.00282%, afr).

How common is YAP1 p.Ala50= (c.150C>T) in the general population?

YAP1 p.Ala50= (c.150C>T) is very rare (popmax 0.00282%, afr) (gnomAD).

YAP1 p.Ala50=

c.150C>T · VCV4913631

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00282%, afr)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -1.6	GERP -0.43
Overall
CADD	13.31	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00282% African / African-American · 2/70,876 alleles

Filtering AF 0.00116% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000988%

Overall 0.00159% 25/1,567,418 alleles · very rare exomes 23/1,415,278 · genomes 2/152,140 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00282%	35,438
Admixed American	0.00183%	54,598
European (non-Finnish)	0.00181%	55,219
Remaining individualsnot grpmax-eligible	0.00166%	60,390

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: YAP1
Protein: p.Ala50=
Coding: c.150C>T
MANE Select: NM_001130145
Type: single nucleotide variant
Location: chr11:102110998 (GRCh38)
Gene constraint: LOEUF 0.212 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 58.46 · 41 PDB
Residue 50: the 'disordered' region

Full YAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

YAP1 p.Gln238Ter Uncertain significance ★★ same type
YAP1 p.Ser105Pro Uncertain significance ★★ ⚠ same type
YAP1 p.Thr145Ser Uncertain significance ★★ ⚠ same type
YAP1 p.Val55Leu Uncertain significance ★★ ⚠ same type
YAP1 c.1276+42G>C Benign ★★ same type
YAP1 c.322-157A>G Benign ★★ same type
YAP1 c.322-247C>T Benign ★★ same type
YAP1 c.802+206C>A Benign ★★ 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/yap1-p-ala50 (accessed [today's date]).

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