V52M (p.Val52Met) variant of NOS1AP (O75052)
V52M (p.Val52Met) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V52M (p.Val52Met) variant details
- p.Val52Met
- ExAC rs779389791
- TOPMed rs779389791
- gnomAD rs779389791
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.28
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available