V76M (p.Val76Met) variant of ABCG5 (Q9H222)
V76M (p.Val76Met) 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; Sitosterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V76M (p.Val76Met) variant details
- p.Val76Met
- rs368811625
- ClinGen CA1636742
- ClinVar RCV001062708
- ClinVar RCV002445326
- Uncertain significance
- Cardiovascular phenotype; Sitosterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- AlphaMissense 0.10
- MetaLR 0.69
- MetaSVM 0.01
- CADD 3.52
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Sitosterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00034)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)