P68L (p.Pro68Leu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
P68L (p.Pro68Leu) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
P68L (p.Pro68Leu) variant details
- p.Pro68Leu
- Ensembl rs1819927610
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.92
- MetaLR 0.91
- MetaSVM 1.05
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available