S43G (p.Ser43Gly) variant of PIK3R1 (P27986)
S43G (p.Ser43Gly) 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 0.23 / 1. The record also includes population frequency data and structural context.
S43G (p.Ser43Gly) variant details
- p.Ser43Gly
- rs962529901
- TOPMed rs962529901
- gnomAD rs962529901
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.03
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.53
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available