I74V (p.Ile74Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
I74V (p.Ile74Val) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
I74V (p.Ile74Val) variant details
- p.Ile74Val
- 1000Genomes rs148197561
- ESP rs148197561
- ExAC rs148197561
- TOPMed rs148197561
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.09
- MetaLR 0.19
- MetaSVM -0.96
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the 1KG:MSL population (allele frequency 0.0064)
- Structural context available