R44S (p.Arg44Ser) variant of NOS1AP (O75052)
R44S (p.Arg44Ser) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R44S (p.Arg44Ser) variant details
- p.Arg44Ser
- gnomAD 1-162154431-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.31
- MetaLR 0.04
- MetaSVM -1.11
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available