I171V (p.Ile171Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
I171V (p.Ile171Val) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I171V (p.Ile171Val) variant details
- p.Ile171Val
- rs139239552
- ClinGen CA4338541
- ClinVar RCV002967339
- ESP rs139239552
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.26
- MetaLR 0.42
- MetaSVM -0.52
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available