R96L (p.Arg96Leu) variant of CYP17A1 (P05093)
R96L (p.Arg96Leu) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
R96L (p.Arg96Leu) variant details
- p.Arg96Leu
- rs104894153
- ClinGen CA377940576
- ClinVar RCV003719569
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 0.91
- MetaLR 0.79
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in AH5)
- UniProt: Likely pathogenic (in AH5)
- Structural context available