P11A (p.Pro11Ala) variant of NOS3 (Nitric oxide synthase 3)
P11A (p.Pro11Ala) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P11A (p.Pro11Ala) variant details
- p.Pro11Ala
- gnomAD 7-150993834-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.07
- CADD 10.50
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available