E10K (p.Glu10Lys) variant of NOS3 (Nitric oxide synthase 3)
E10K (p.Glu10Lys) 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 0.34 / 1. The record also includes population frequency data and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- rs547845670
- NCI-TCGA Cosmic COSV5248
- cosmic curated COSV52488
- NCI-TCGA Cosmic COSV5249
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.06
- CADD 22.20
- PolyPhen-2 0.05
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available