V157I (p.Val157Ile) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
V157I (p.Val157Ile) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V157I (p.Val157Ile) variant details
- p.Val157Ile
- cosmic curated COSV10720
- ExAC rs766245719
- gnomAD rs766245719
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.06
- MetaLR 0.13
- MetaSVM -1.04
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.54
- Population evidence available
- Structural context available