R139H (p.Arg139His) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
R139H (p.Arg139His) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R139H (p.Arg139His) variant details
- p.Arg139His
- cosmic curated COSV50151
- ESP rs140356336
- ExAC rs140356336
- TOPMed rs140356336
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.06
- MetaLR 0.13
- MetaSVM -1.04
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available