K70R (p.Lys70Arg) variant of NOS1AP (O75052)
K70R (p.Lys70Arg) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K70R (p.Lys70Arg) variant details
- p.Lys70Arg
- gnomAD 1-162287375-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.13
- MetaLR 0.03
- MetaSVM -1.06
- CADD 24.10
- PolyPhen-2 0.79
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available