A2S (p.Ala2Ser) variant of PIK3R2 (O00459)
A2S (p.Ala2Ser) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 19-18155883-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.09
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available