V78L (p.Val78Leu) variant of NOS1AP (O75052)
V78L (p.Val78Leu) in NOS1AP (O75052) 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.
V78L (p.Val78Leu) variant details
- p.Val78Leu
- gnomAD 1-162287398-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.24
- MetaLR 0.11
- MetaSVM -0.97
- CADD 25.80
- PolyPhen-2 0.90
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available