Y45H (p.Tyr45His) variant of ABCG5 (Q9H222)
Y45H (p.Tyr45His) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
Y45H (p.Tyr45His) variant details
- p.Tyr45His
- gnomAD rs1208543291
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 28.30
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available