Y40C (p.Tyr40Cys) variant of ABCG8 (Q9H221)
Y40C (p.Tyr40Cys) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Y40C (p.Tyr40Cys) variant details
- p.Tyr40Cys
- ExAC rs771547389
- gnomAD rs771547389
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.81
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available