K5R (p.Lys5Arg) variant of NOS3 (Nitric oxide synthase 3)
K5R (p.Lys5Arg) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
K5R (p.Lys5Arg) variant details
- p.Lys5Arg
- gnomAD rs1164406674
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.08
- CADD 24.60
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available