A133T (p.Ala133Thr) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A133T (p.Ala133Thr) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
A133T (p.Ala133Thr) variant details
- p.Ala133Thr
- TOPMed rs1819864606
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.72
- MetaLR 0.61
- MetaSVM 0.43
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available