M24L (p.Met24Leu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
M24L (p.Met24Leu) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
M24L (p.Met24Leu) variant details
- p.Met24Leu
- rs772192197
- ClinGen CA4338693
- ClinVar RCV004352179
- ExAC rs772192197
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -1.06
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available