V81M (p.Val81Met) variant of NOS1AP (O75052)
V81M (p.Val81Met) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
V81M (p.Val81Met) variant details
- p.Val81Met
- ExAC rs749016887
- gnomAD rs749016887
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.43
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available