I70V (p.Ile70Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
I70V (p.Ile70Val) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I70V (p.Ile70Val) variant details
- p.Ile70Val
- ExAC rs766521402
- gnomAD rs766521402
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.37
- MetaLR 0.28
- MetaSVM -0.61
- CADD 26.40
- PolyPhen-2 0.03
- SIFT 0.92
- Most common in the South Asian population (allele frequency 7.1e-05)
- Structural context available