T319M (p.Thr319Met) variant of CYP11B1 (P15538)
T319M (p.Thr319Met) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
T319M (p.Thr319Met) variant details
- p.Thr319Met
- rs104894068
- ClinGen CA339881
- NCI-TCGA Cosmic COSV5282
- cosmic curated COSV52827
- Pathogenic/Likely pathogenic
- Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.77
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Glucocorticoid-remediable aldosteronism; Deficiency of steroid 1)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available
- Cited in: Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and… (PMID 20089618)
- Cited in: CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency. (PMID 9302260)