P38R (p.Pro38Arg) variant of NOS3 (Nitric oxide synthase 3)
P38R (p.Pro38Arg) 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 0.25 / 1. The record also includes population frequency data and structural context.
P38R (p.Pro38Arg) variant details
- p.Pro38Arg
- TOPMed rs907719973
- gnomAD rs907719973
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.07
- CADD 15.20
- PolyPhen-2 0.05
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available