L99V (p.Leu99Val) variant of PIK3CD (O00329)
L99V (p.Leu99Val) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L99V (p.Leu99Val) variant details
- p.Leu99Val
- gnomAD 1-9715694-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.68
- MetaLR 0.71
- MetaSVM 0.42
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available