A41T (p.Ala41Thr) variant of NOS3 (Nitric oxide synthase 3)
A41T (p.Ala41Thr) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A41T (p.Ala41Thr) variant details
- p.Ala41Thr
- gnomAD 7-150993924-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.04
- CADD 9.33
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available