P34A (p.Pro34Ala) variant of NOS3 (Nitric oxide synthase 3)
P34A (p.Pro34Ala) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P34A (p.Pro34Ala) variant details
- p.Pro34Ala
- TOPMed rs913170985
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.11
- CADD 14.30
- PolyPhen-2 0.98
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available