I88T (p.Ile88Thr) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
I88T (p.Ile88Thr) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
I88T (p.Ile88Thr) variant details
- p.Ile88Thr
- ESP rs149112643
- ExAC rs149112643
- TOPMed rs149112643
- gnomAD rs149112643
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.69
- MetaLR 0.69
- MetaSVM 0.42
- CADD 23.10
- PolyPhen-2 0.18
- SIFT 0.08
- Most common in the Ashkenazi Jewish population (allele frequency 0.0043)
- Structural context available