M106V (p.Met106Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
M106V (p.Met106Val) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
M106V (p.Met106Val) variant details
- p.Met106Val
- rs146474563
- ClinGen CA4338587
- ClinVar RCV003387616
- ESP rs146474563
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.29
- MetaLR 0.44
- MetaSVM -0.38
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available