R56C (p.Arg56Cys) variant of NOS1AP (O75052)
R56C (p.Arg56Cys) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R56C (p.Arg56Cys) variant details
- p.Arg56Cys
- Ensembl rs878883513
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.35
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available