L25V (p.Leu25Val) variant of ABCG5 (Q9H222)
L25V (p.Leu25Val) 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 0.11 / 1. The record also includes population frequency data and structural context.
L25V (p.Leu25Val) variant details
- p.Leu25Val
- rs1668435149
- ClinGen CA346661933
- ClinVar RCV004171371
- gnomAD rs1668435149
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 5.28
- PolyPhen-2 0.02
- SIFT 0.67
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available