I171M (p.Ile171Met) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
I171M (p.Ile171Met) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
I171M (p.Ile171Met) variant details
- p.Ile171Met
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.61
- MetaLR 0.60
- MetaSVM 0.05
- CADD 23.00
- PolyPhen-2 0.68
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available