E4K (p.Glu4Lys) variant of PIK3R1 (P27986)
E4K (p.Glu4Lys) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- ExAC rs762586316
- gnomAD rs762586316
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 5.43
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available