D71N (p.Asp71Asn) variant of ABCG5 (Q9H222)
D71N (p.Asp71Asn) 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.
D71N (p.Asp71Asn) variant details
- p.Asp71Asn
- ExAC rs767291426
- gnomAD rs767291426
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 23.50
- PolyPhen-2 0.91
- SIFT 0.25
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available