P50S (p.Pro50Ser) variant of PIK3R1 (P27986)
P50S (p.Pro50Ser) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- rs1158240702
- gnomAD 5-68239910-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.32
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available
- Literature evidence available