H28Q (p.His28Gln) variant of NOS1AP (O75052)
H28Q (p.His28Gln) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H28Q (p.His28Gln) variant details
- p.His28Gln
- ExAC rs776274543
- TOPMed rs776274543
- gnomAD rs776274543
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.18
- CADD 23.80
- PolyPhen-2 0.83
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available