H69R (p.His69Arg) variant of CYP11B1 (P15538)
H69R (p.His69Arg) 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 0.51 / 1. The record also includes population frequency data and structural context.
H69R (p.His69Arg) variant details
- p.His69Arg
- rs747287245
- ClinGen CA187467710
- cosmic curated COSV10734
- ClinVar RCV001163729
- Uncertain significance
- Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.45
- CADD 22.30
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Uncertain significance (Glucocorticoid-remediable aldosteronism; Deficiency of steroid 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available