T26M (p.Thr26Met) variant of CYP11B1 (P15538)
T26M (p.Thr26Met) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldostero. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T26M (p.Thr26Met) variant details
- p.Thr26Met
- rs139569725
- ClinGen CA4905724
- cosmic curated COSV52825
- ClinVar RCV000487967
- Uncertain significance
- Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldostero
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.21
- CADD 21.30
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-reme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available