G3C (p.Gly3Cys) variant of PIK3R2 (O00459)
G3C (p.Gly3Cys) 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.
G3C (p.Gly3Cys) variant details
- p.Gly3Cys
- gnomAD 19-18155886-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.10
- CADD 24.20
- PolyPhen-2 0.53
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available