D118V (p.Asp118Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
D118V (p.Asp118Val) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
D118V (p.Asp118Val) variant details
- p.Asp118Val
- 1000Genomes rs528523424
- ExAC rs528523424
- TOPMed rs528523424
- gnomAD rs528523424
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.76
- MetaLR 0.66
- MetaSVM 0.41
- CADD 28.50
- PolyPhen-2 0.68
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available