R67L (p.Arg67Leu) variant of CYP17A1 (P05093)
R67L (p.Arg67Leu) in CYP17A1 (P05093) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
R67L (p.Arg67Leu) variant details
- p.Arg67Leu
- ESP rs376074317
- ExAC rs376074317
- TOPMed rs376074317
- gnomAD rs376074317
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.52
- CADD 14.50
- PolyPhen-2 0.73
- SIFT 0.56
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available