M35I (p.Met35Ile) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
M35I (p.Met35Ile) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
M35I (p.Met35Ile) variant details
- p.Met35Ile
- ExAC rs751210534
- gnomAD rs751210534
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.09
- MetaLR 0.13
- MetaSVM -1.00
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available