A34V (p.Ala34Val) variant of NOS1AP (O75052)
A34V (p.Ala34Val) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- cosmic curated COSV62640
- gnomAD rs1411966946
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.22
- CADD 26.00
- PolyPhen-2 0.91
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available