R141Q (p.Arg141Gln) variant of CYP11B1 (P15538)
R141Q (p.Arg141Gln) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CYP11B1-related disorder; not provided; Congenital adrenal hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R141Q (p.Arg141Gln) variant details
- p.Arg141Gln
- rs267601810
- ClinGen CA4905443
- NCI-TCGA Cosmic COSV9945
- cosmic curated COSV99454
- Pathogenic/Likely pathogenic
- CYP11B1-related disorder; not provided; Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.87
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (CYP11B1-related disorder; not provided; Congenital adrenal hyper)
- EBI: Likely pathogenic (in AH4)
- UniProt: Likely pathogenic (in AH4)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11 β -Hydroxylase Deficiency. (PMID 24987415)
- Cited in: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PMID 16046588)