R138C (p.Arg138Cys) variant of CYP11B1 (P15538)
R138C (p.Arg138Cys) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Deficiency of steroid 11-beta-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R138C (p.Arg138Cys) variant details
- p.Arg138Cys
- rs764251434
- ClinGen CA4905446
- NCI-TCGA Cosmic COSV5283
- cosmic curated COSV52830
- Pathogenic/Likely pathogenic
- not provided; Deficiency of steroid 11-beta-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.46
- AlphaMissense 0.13
- MetaLR 0.26
- MetaSVM -0.66
- CADD 22.00
- PolyPhen-2 0.63
- ClinVar: Pathogenic/Likely pathogenic (not provided; Deficiency of steroid 11-beta-monooxygenase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available