M164L (p.Met164Leu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
M164L (p.Met164Leu) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
M164L (p.Met164Leu) variant details
- p.Met164Leu
- 1000Genomes rs144068591
- ExAC rs144068591
- TOPMed rs144068591
- gnomAD rs144068591
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.21
- MetaLR 0.25
- MetaSVM -0.69
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available