L114P (p.Leu114Pro) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
L114P (p.Leu114Pro) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
L114P (p.Leu114Pro) variant details
- p.Leu114Pro
- gnomAD rs1242380745
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.81
- MetaLR 0.51
- MetaSVM 0.04
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available