F42V (p.Phe42Val) variant of PIK3R1 (P27986)
F42V (p.Phe42Val) in PIK3R1 (P27986) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
F42V (p.Phe42Val) variant details
- p.Phe42Val
- rs1450313327
- gnomAD rs1450313327
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.20
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available