A41S (p.Ala41Ser) variant of NOS3 (Nitric oxide synthase 3)
A41S (p.Ala41Ser) 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 0.16 / 1. The record also includes population frequency data and structural context.
A41S (p.Ala41Ser) variant details
- p.Ala41Ser
- rs1802310466
- ClinGen CA369851011
- ClinVar RCV004488191
- gnomAD rs1802310466
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.04
- CADD 5.89
- PolyPhen-2 0.02
- SIFT 0.79
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available