A94T (p.Ala94Thr) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A94T (p.Ala94Thr) 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 Developmental cataract. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A94T (p.Ala94Thr) variant details
- p.Ala94Thr
- rs1819926035
- ClinGen CA368180826
- ClinVar RCV001775023
- Ensembl rs1819926035
- Uncertain significance
- Developmental cataract
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.43
- MetaLR 0.53
- MetaSVM 0.08
- CADD 26.80
- PolyPhen-2 0.83
- SIFT 0.45
- ClinVar: Uncertain significance (Developmental cataract)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0001)
- Structural context available