P2RY11 p.Pro283=
c.849G>A · rs111752629 · VCV716471
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.101%, 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 -14 | GERP -3.2 |
| Overall | ||
| CADD | 0.031 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.101%
African / African-American · 76/75,048 alleles
Filtering AF
0.0829%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0762%
Overall
0.0118%
191/1,612,062 alleles · rare
exomes 153/1,459,722 · genomes 38/152,340 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.101% | 987 |
| Remaining individualsnot grpmax-eligible | 0.0352% | 2,839 |
| South Asian | 0.0231% | 4,336 |
| Admixed American | 0.00833% | 12,002 |
| European (non-Finnish) | 0.00551% | 18,151 |
| East Asian | 0.00446% | 22,434 |
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.Pro283=
- Coding
- c.849G>A
- MANE Select
- NM_002566
- dbSNP
- rs111752629
- Type
- single nucleotide variant
- Location
- chr19:10114462 (GRCh38)
- Gene constraint
- LOEUF 1.905 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.11
Similar variants
- P2RY11 p.Arg276Trp Likely benign ★★ same type
- P2RY11 p.Leu216= Benign ★★ same type
- P2RY11 p.Pro367= 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
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-pro283 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown