A43T (p.Ala43Thr) variant of NOS3 (Nitric oxide synthase 3)
A43T (p.Ala43Thr) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- gnomAD 7-150993930-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.01
- CADD 7.57
- PolyPhen-2 0.04
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available