L8V (p.Leu8Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
L8V (p.Leu8Val) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. 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.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- ExAC rs759186637
- gnomAD rs759186637
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.08
- MetaLR 0.10
- MetaSVM -0.95
- CADD 0.66
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available