Q73R (p.Gln73Arg) variant of CYP11B1 (P15538)
Q73R (p.Gln73Arg) 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 0.16 / 1. The record also includes population frequency data and structural context.
Q73R (p.Gln73Arg) variant details
- p.Gln73Arg
- rs371662064
- ClinGen CA4905679
- ClinVar RCV001163727
- ClinVar RCV001163728
- Uncertain significance
- Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.08
- CADD 17.00
- PolyPhen-2 0.05
- SIFT 0.11
- 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 7.3e-05)
- Structural context available