G14V (p.Gly14Val) variant of ABCG5 (Q9H222)
G14V (p.Gly14Val) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ABCG5-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G14V (p.Gly14Val) variant details
- p.Gly14Val
- gnomAD rs1166674418
- Uncertain significance
- ABCG5-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- CADD 2.93
- PolyPhen-2 0.13
- SIFT 0.08
- ClinVar: Uncertain significance (ABCG5-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available