E65K (p.Glu65Lys) variant of PIK3R1 (P27986)
E65K (p.Glu65Lys) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E65K (p.Glu65Lys) variant details
- p.Glu65Lys
- Ensembl rs2111964583
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.35
- CADD 27.00
- PolyPhen-2 0.49
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available