L27V (p.Leu27Val) variant of ABCG8 (Q9H221)
L27V (p.Leu27Val) in ABCG8 (Q9H221) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- TOPMed rs879383949
- gnomAD rs879383949
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.14
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.26
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available