R139C (p.Arg139Cys) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
R139C (p.Arg139Cys) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R139C (p.Arg139Cys) variant details
- p.Arg139Cys
- rs758553106
- ClinGen CA4338570
- ClinVar RCV003702257
- ExAC rs758553106
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.44
- MetaLR 0.46
- MetaSVM -0.05
- CADD 26.40
- PolyPhen-2 0.75
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available