G5V (p.Gly5Val) variant of PIK3R1 (P27986)
G5V (p.Gly5Val) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- cosmic curated COSV10940
- ExAC rs762202728
- TOPMed rs762202728
- gnomAD rs762202728
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.50
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available