P2RY11 p.Pro367=
c.1101C>G · rs74462278 · VCV779041
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.58%, sas)
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 0.29 | GERP 1.2 |
| Overall | ||
| CADD | 0.747 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.58%
South Asian · 4,155/90,702 alleles
Filtering AF
4.46%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.42%
Overall
0.386%
6,205/1,609,574 alleles · low-frequency
exomes 5,749/1,457,230 · genomes 456/152,344 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 4.58% | 22 |
| East Asian | 3.02% | 33 |
| Remaining individualsnot grpmax-eligible | 0.7% | 143 |
| Middle Eastern | 0.133% | 752 |
| Admixed American | 0.115% | 867 |
| African / African-American | 0.0253% | 3,947 |
| European (non-Finnish) | 0.0143% | 7,005 |
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
- P2RY11
- Protein
- p.Pro367=
- Coding
- c.1101C>G
- MANE Select
- NM_002566
- dbSNP
- rs74462278
- Type
- single nucleotide variant
- Location
- chr19:10114714 (GRCh38)
- Gene constraint
- LOEUF 1.905 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.11
- Residue 367
- the 'disordered' region
Similar variants
- P2RY11 p.Arg276Trp Likely benign ★★ same type
- P2RY11 p.Leu216= Benign ★★ same type
- P2RY11 p.Ser116= Benign ★★ same type
- P2RY11 p.Ser349Asn Benign ★★ same type
- P2RY11 p.Tyr257= Benign ★★ same type
- P2RY11 p.Tyr261Cys Likely benign ★★ same type
- PPAN-P2RY11 p.Ala577Val Uncertain significance ★ ⚠ same type
- PPAN-P2RY11 p.Ala743Val 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/p2ry11-p-pro367 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown