A43V (p.Ala43Val) variant of ABCG5 (Q9H222)
A43V (p.Ala43Val) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar 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 0.46 / 1. The record also includes population frequency data and structural context.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- gnomAD rs1181566629
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 7.36
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Cardiovascular phenotype)
- UniProt: Likely benign
- Most common in the HGDP:KALASH population (allele frequency 0.048)
- Structural context available