P54R (p.Pro54Arg) variant of NOS3 (Nitric oxide synthase 3)
P54R (p.Pro54Arg) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P54R (p.Pro54Arg) variant details
- p.Pro54Arg
- 1000Genomes rs201405443
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.07
- CADD 19.20
- PolyPhen-2 0.18
- SIFT 0.03
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available