C10R (p.Cys10Arg) variant of CYP11B1 (P15538)
C10R (p.Cys10Arg) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
C10R (p.Cys10Arg) variant details
- p.Cys10Arg
- ExAC rs778976411
- TOPMed rs778976411
- gnomAD rs778976411
- Uncertain significance
- Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.20
- CADD 1.81
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (Glucocorticoid-remediable aldosteronism; Deficiency of steroid 1)
- EBI: Variant of uncertain significance (in dbSNP:rs6405)
- UniProt: Uncertain significance (in dbSNP:rs6405)
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available