A5V (p.Ala5Val) variant of ABCG8 (Q9H221)
A5V (p.Ala5Val) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- TOPMed rs1447413028
- gnomAD rs1447413028
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.14
- CADD 0.50
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available