L36R (p.Leu36Arg) variant of CYP11B1 (P15538)
L36R (p.Leu36Arg) 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 0.19 / 1. The record also includes population frequency data and structural context.
L36R (p.Leu36Arg) variant details
- p.Leu36Arg
- rs755448048
- ClinGen CA372397334
- ClinVar RCV001158809
- ClinVar RCV001163731
- Uncertain significance
- Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.13
- CADD 11.20
- PolyPhen-2 0.02
- SIFT 0.81
- ClinVar: Uncertain significance (Glucocorticoid-remediable aldosteronism; Deficiency of steroid 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available