L36V (p.Leu36Val) variant of ABCG8 (Q9H221)
L36V (p.Leu36Val) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L36V (p.Leu36Val) variant details
- p.Leu36Val
- ExAC rs780526039
- TOPMed rs780526039
- gnomAD rs780526039
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.58
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available