V144M (p.Val144Met) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
V144M (p.Val144Met) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
V144M (p.Val144Met) variant details
- p.Val144Met
- Ensembl rs898646402
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.78
- MetaLR 0.76
- MetaSVM 0.64
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available