T112S (p.Thr112Ser) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
T112S (p.Thr112Ser) 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 0.77 / 1. The record also includes population frequency data and structural context.
T112S (p.Thr112Ser) variant details
- p.Thr112Ser
- rs759517992
- ClinGen CA4338583
- ClinVar RCV004370605
- ExAC rs759517992
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.85
- MetaLR 0.81
- MetaSVM 0.85
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available