V316M (p.Val316Met) variant of CYP11B1 (P15538)
V316M (p.Val316Met) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.39 / 1. The record also includes population frequency data and structural context.
V316M (p.Val316Met) variant details
- p.Val316Met
- rs375833424
- ClinGen CA4905245
- ClinVar RCV001290136
- ClinVar RCV002541804
- Pathogenic/Likely pathogenic
- Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldostero
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.34
- CADD 23.30
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-reme)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:PIMA population (allele frequency 0.045)
- Structural context available