H21R (p.His21Arg) variant of NOS1AP (O75052)
H21R (p.His21Arg) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
H21R (p.His21Arg) variant details
- p.His21Arg
- gnomAD 1-162070239-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.22
- MetaLR 0.04
- MetaSVM -1.11
- CADD 28.10
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available