P68T (p.Pro68Thr) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
P68T (p.Pro68Thr) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
P68T (p.Pro68Thr) variant details
- p.Pro68Thr
- gnomAD rs1168081018
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.94
- MetaLR 0.91
- MetaSVM 1.05
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available