A3D (p.Ala3Asp) variant of PIK3R1 (P27986)
A3D (p.Ala3Asp) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A3D (p.Ala3Asp) variant details
- p.Ala3Asp
- TOPMed rs1744286902
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.32
- CADD 25.00
- PolyPhen-2 0.55
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available