A54V (p.Ala54Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A54V (p.Ala54Val) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- gnomAD rs1217673079
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.09
- MetaLR 0.09
- MetaSVM -1.02
- CADD 4.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available