D71H (p.Asp71His) variant of ABCG5 (Q9H222)
D71H (p.Asp71His) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D71H (p.Asp71His) variant details
- p.Asp71His
- ExAC rs767291426
- gnomAD rs767291426
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available