R59Q (p.Arg59Gln) variant of NOS1AP (O75052)
R59Q (p.Arg59Gln) in NOS1AP (O75052) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R59Q (p.Arg59Gln) variant details
- p.Arg59Gln
- rs746991588
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10072
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.16
- CADD 24.60
- PolyPhen-2 0.34
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available