Y8C (p.Tyr8Cys) variant of PIK3R1 (P27986)
Y8C (p.Tyr8Cys) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
Y8C (p.Tyr8Cys) variant details
- p.Tyr8Cys
- gnomAD rs1284153706
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.59
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available