V30L (p.Val30Leu) variant of PIK3R2 (O00459)
V30L (p.Val30Leu) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
V30L (p.Val30Leu) variant details
- p.Val30Leu
- gnomAD 19-18155967-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0859
- REVEL 0.05
- CADD 6.57
- PolyPhen-2 0.00
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available