M35L (p.Met35Leu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
M35L (p.Met35Leu) 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.
M35L (p.Met35Leu) variant details
- p.Met35Leu
- gnomAD rs1278131014
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.13
- MetaLR 0.08
- MetaSVM -0.97
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available