V49M (p.Val49Met) variant of NOS1AP (O75052)
V49M (p.Val49Met) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V49M (p.Val49Met) variant details
- p.Val49Met
- gnomAD 1-162154444-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.12
- MetaLR 0.02
- MetaSVM -0.98
- CADD 23.60
- PolyPhen-2 0.59
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available