G28V (p.Gly28Val) variant of PIK3R2 (O00459)
G28V (p.Gly28Val) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G28V (p.Gly28Val) variant details
- p.Gly28Val
- gnomAD 19-18155962-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.46
- CADD 29.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available