R40W (p.Arg40Trp) variant of NOS3 (Nitric oxide synthase 3)
R40W (p.Arg40Trp) in NOS3 (Nitric oxide synthase 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R40W (p.Arg40Trp) variant details
- p.Arg40Trp
- rs764652925
- cosmic curated COSV10462
- NCI-TCGA Cosmic COSV9987
- ExAC rs764652925
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.08
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00021)
- Structural context available