V76L (p.Val76Leu) variant of ABCG5 (Q9H222)
V76L (p.Val76Leu) 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 0.51 / 1. The record also includes structural context.
V76L (p.Val76Leu) variant details
- p.Val76Leu
- rs368811625
- ClinGen CA346661468
- ClinVar RCV002443875
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 0.10
- MetaLR 0.69
- MetaSVM 0.01
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available