P42R (p.Pro42Arg) variant of CYP11B1 (P15538)
P42R (p.Pro42Arg) in CYP11B1 (P15538) 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 0.67 / 1. The record also includes population frequency data and structural context.
P42R (p.Pro42Arg) variant details
- p.Pro42Arg
- rs193922538
- ClinGen CA372397296
- ClinVar RCV003046345
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.60
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in AH4)
- UniProt: Likely pathogenic (in AH4)
- Population evidence available
- Structural context available