Y6C (p.Tyr6Cys) variant of PIK3R1 (P27986)
Y6C (p.Tyr6Cys) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Y6C (p.Tyr6Cys) variant details
- p.Tyr6Cys
- gnomAD 5-68226692-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.37
- CADD 27.60
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available