A5T (p.Ala5Thr) variant of GNAT1 (P11488)
A5T (p.Ala5Thr) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- gnomAD 3-50191738-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.36
- CADD 23.80
- PolyPhen-2 0.59
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available