L11V (p.Leu11Val) variant of ABCG8 (Q9H221)
L11V (p.Leu11Val) in ABCG8 (Q9H221) 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 0.18 / 1. The record also includes population frequency data and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- rs1016895349
- ClinGen CA46426888
- ClinVar RCV002322952
- TOPMed rs1016895349
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.06
- CADD 14.00
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available