R141L (p.Arg141Leu) variant of CYP11B1 (P15538)
R141L (p.Arg141Leu) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of steroid 11-beta-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R141L (p.Arg141Leu) variant details
- p.Arg141Leu
- rs267601810
- ClinGen CA372396182
- ClinVar RCV003459898
- Likely pathogenic
- Deficiency of steroid 11-beta-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.81
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Deficiency of steroid 11-beta-monooxygenase)
- EBI: Likely pathogenic (in AH4)
- UniProt: Likely pathogenic (in AH4)
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available