K5N (p.Lys5Asn) variant of NOS3 (Nitric oxide synthase 3)
K5N (p.Lys5Asn) in NOS3 (Nitric oxide synthase 3) 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 0.29 / 1. The record also includes population frequency data and structural context.
K5N (p.Lys5Asn) variant details
- p.Lys5Asn
- rs1363067747
- NCI-TCGA Cosmic COSV5249
- cosmic curated COSV52493
- TOPMed rs1363067747
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.10
- CADD 24.40
- PolyPhen-2 0.78
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available