Y61H (p.Tyr61His) variant of CYP11B1 (P15538)
Y61H (p.Tyr61His) 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 0.11 / 1. The record also includes population frequency data and structural context.
Y61H (p.Tyr61His) variant details
- p.Tyr61His
- TOPMed rs1158682185
- gnomAD rs1158682185
- Uncertain significance
- Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.12
- CADD 5.84
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Uncertain significance (Glucocorticoid-remediable aldosteronism; Deficiency of steroid 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available