A49T (p.Ala49Thr) variant of NOS3 (Nitric oxide synthase 3)
A49T (p.Ala49Thr) 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.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- gnomAD 7-150993948-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.06
- CADD 15.10
- PolyPhen-2 0.05
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available