R57W (p.Arg57Trp) variant of NOS1AP (O75052)
R57W (p.Arg57Trp) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R57W (p.Arg57Trp) variant details
- p.Arg57Trp
- cosmic curated COSV62632
- ExAC rs530681530
- gnomAD rs530681530
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.38
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available