H21Q (p.His21Gln) variant of NOS1AP (O75052)
H21Q (p.His21Gln) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
H21Q (p.His21Gln) variant details
- p.His21Gln
- gnomAD 1-162070240-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.12
- MetaLR 0.03
- MetaSVM -1.13
- CADD 26.10
- PolyPhen-2 0.62
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available