H28Y (p.His28Tyr) variant of NOS1AP (O75052)
H28Y (p.His28Tyr) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
H28Y (p.His28Tyr) variant details
- p.His28Tyr
- TOPMed rs1469384693
- gnomAD rs1469384693
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.14
- CADD 24.40
- PolyPhen-2 0.37
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available