V107I (p.Val107Ile) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
V107I (p.Val107Ile) 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 0.32 / 1. The record also includes population frequency data and structural context.
V107I (p.Val107Ile) variant details
- p.Val107Ile
- 1000Genomes rs551704866
- ExAC rs551704866
- TOPMed rs551704866
- gnomAD rs551704866
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.19
- MetaLR 0.32
- MetaSVM -0.50
- CADD 19.90
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available