R57Q (p.Arg57Gln) variant of NOS1AP (O75052)
R57Q (p.Arg57Gln) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R57Q (p.Arg57Gln) variant details
- p.Arg57Gln
- 1000Genomes rs543118232
- ExAC rs543118232
- TOPMed rs543118232
- gnomAD rs543118232
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.23
- CADD 31.00
- PolyPhen-2 0.53
- SIFT 0.01
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available