A8T (p.Ala8Thr) variant of NOS3 (Nitric oxide synthase 3)
A8T (p.Ala8Thr) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- gnomAD 7-150993825-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.06
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available