Y59C (p.Tyr59Cys) variant of PIK3R1 (P27986)
Y59C (p.Tyr59Cys) in PIK3R1 (P27986) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
Y59C (p.Tyr59Cys) variant details
- p.Tyr59Cys
- cosmic curated COSV57137
- ExAC rs761431445
- gnomAD rs761431445
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.10
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available