P58A (p.Pro58Ala) variant of NOS3 (Nitric oxide synthase 3)
P58A (p.Pro58Ala) 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.
P58A (p.Pro58Ala) variant details
- p.Pro58Ala
- gnomAD 7-150995216-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.04
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available