V92L (p.Val92Leu) variant of PIK3CD (O00329)
V92L (p.Val92Leu) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V92L (p.Val92Leu) variant details
- p.Val92Leu
- gnomAD 1-9715673-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.12
- MetaLR 0.22
- MetaSVM -0.86
- CADD 22.60
- PolyPhen-2 0.25
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available