L27F (p.Leu27Phe) variant of ABCG8 (Q9H221)
L27F (p.Leu27Phe) 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 0.30 / 1. The record also includes population frequency data and structural context.
L27F (p.Leu27Phe) variant details
- p.Leu27Phe
- ExAC rs751787457
- gnomAD rs751787457
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.11
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available