T105N (p.Thr105Asn) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
T105N (p.Thr105Asn) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T105N (p.Thr105Asn) variant details
- p.Thr105Asn
- ExAC rs750608351
- gnomAD rs750608351
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.29
- MetaLR 0.24
- MetaSVM -0.70
- CADD 23.80
- PolyPhen-2 0.26
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available