A49V (p.Ala49Val) variant of NOS3 (Nitric oxide synthase 3)
A49V (p.Ala49Val) in NOS3 (Nitric oxide synthase 3) is a missense change. Clinical records from ClinVar, EBI, 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 0.17 / 1. The record also includes population frequency data and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- rs755710890
- ClinGen CA4566481
- ClinVar RCV004345066
- ExAC rs755710890
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.05
- CADD 16.10
- PolyPhen-2 0.07
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0002)
- Structural context available