G78V (p.Gly78Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
G78V (p.Gly78Val) 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.
G78V (p.Gly78Val) variant details
- p.Gly78Val
- ExAC rs771992136
- gnomAD rs771992136
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.94
- MetaLR 0.90
- MetaSVM 1.04
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available