D24V (p.Asp24Val) variant of NOS1AP (O75052)
D24V (p.Asp24Val) 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, published literature, and structural context.
D24V (p.Asp24Val) variant details
- p.Asp24Val
- gnomAD 1-162070248-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.31
- MetaLR 0.01
- MetaSVM -1.00
- CADD 25.80
- PolyPhen-2 0.14
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available