T73A (p.Thr73Ala) variant of GNAT1 (P11488)
T73A (p.Thr73Ala) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
T73A (p.Thr73Ala) variant details
- p.Thr73Ala
- gnomAD 3-50193332-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.80
- CADD 22.80
- PolyPhen-2 0.12
- SIFT 0.10
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available