H14Q (p.His14Gln) variant of NOS1AP (O75052)
H14Q (p.His14Gln) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
H14Q (p.His14Gln) variant details
- p.His14Gln
- gnomAD 1-162070219-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -1.07
- CADD 21.20
- PolyPhen-2 0.07
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available