P42A (p.Pro42Ala) variant of CYP11B1 (P15538)
P42A (p.Pro42Ala) 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 0.82 / 1. The record also includes structural context.
P42A (p.Pro42Ala) variant details
- p.Pro42Ala
- rs104894069
- ClinGen CA372397298
- ClinVar RCV002033028
- ESP rs104894069
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- AlphaMissense 0.52
- MetaLR 0.90
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.81
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Structural context available