D71G (p.Asp71Gly) variant of ABCG5 (Q9H222)
D71G (p.Asp71Gly) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
D71G (p.Asp71Gly) variant details
- p.Asp71Gly
- rs761690671
- ClinGen CA1636749
- ClinVar RCV002417742
- ExAC rs761690671
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 25.50
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available