L56V (p.Leu56Val) variant of PIK3R1 (P27986)
L56V (p.Leu56Val) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L56V (p.Leu56Val) variant details
- p.Leu56Val
- gnomAD rs1580173658
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.20
- CADD 22.60
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available