V27E (p.Val27Glu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
V27E (p.Val27Glu) 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 0.28 / 1. The record also includes population frequency data and structural context.
V27E (p.Val27Glu) variant details
- p.Val27Glu
- rs777701358
- ClinGen CA4338691
- ClinVar RCV004116113
- ExAC rs777701358
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- AlphaMissense 0.16
- MetaLR 0.15
- MetaSVM -0.88
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available