Y6S (p.Tyr6Ser) variant of PIK3R1 (P27986)
Y6S (p.Tyr6Ser) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Y6S (p.Tyr6Ser) variant details
- p.Tyr6Ser
- gnomAD 5-68226692-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.34
- CADD 26.30
- PolyPhen-2 0.49
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available