R30Q (p.Arg30Gln) variant of CYP11B1 (P15538)
R30Q (p.Arg30Gln) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remedi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R30Q (p.Arg30Gln) variant details
- p.Arg30Gln
- rs201103987
- ClinGen CA4905716
- cosmic curated COSV52830
- ClinVar RCV000945460
- Likely benign
- not provided; Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remedi
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.14
- CADD 0.76
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Likely benign (not provided; Deficiency of steroid 11-beta-monooxygenase; Gluco)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHS population (allele frequency 0.0098)
- Structural context available