A121T (p.Ala121Thr) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A121T (p.Ala121Thr) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A121T (p.Ala121Thr) variant details
- p.Ala121Thr
- ExAC rs762730609
- TOPMed rs762730609
- gnomAD rs762730609
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.12
- MetaLR 0.22
- MetaSVM -0.81
- CADD 20.30
- PolyPhen-2 0.02
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available