G6C (p.Gly6Cys) variant of PIK3R2 (O00459)
G6C (p.Gly6Cys) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G6C (p.Gly6Cys) variant details
- p.Gly6Cys
- gnomAD 19-18155895-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.23
- CADD 27.40
- PolyPhen-2 0.67
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available