V78M (p.Val78Met) variant of NOS1AP (O75052)
V78M (p.Val78Met) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V78M (p.Val78Met) variant details
- p.Val78Met
- gnomAD 1-162287398-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.34
- MetaLR 0.15
- MetaSVM -0.74
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available