Y70C (p.Tyr70Cys) variant of GNAT1 (P11488)
Y70C (p.Tyr70Cys) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Y70C (p.Tyr70Cys) variant details
- p.Tyr70Cys
- gnomAD 3-50193324-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.94
- CADD 28.40
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available