G42V (p.Gly42Val) variant of ABCG8 (Q9H221)
G42V (p.Gly42Val) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar 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 0.74 / 1. The record also includes population frequency data and structural context.
G42V (p.Gly42Val) variant details
- p.Gly42Val
- TOPMed rs1033059139
- gnomAD rs1033059139
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.71
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available