L46Q (p.Leu46Gln) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
L46Q (p.Leu46Gln) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L46Q (p.Leu46Gln) variant details
- p.Leu46Gln
- Ensembl rs1055251841
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.47
- MetaLR 0.22
- MetaSVM -0.63
- CADD 27.40
- PolyPhen-2 0.82
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available