V48M (p.Val48Met) variant of TTR (Transthyretin)
V48M (p.Val48Met) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiovascular phenotype; Amyloidosis, hereditary systemic 1. The record also includes variant effect predictions, published literature, and structural context.
V48M (p.Val48Met) variant details
- p.Val48Met
- UniProt VAR 010658
- Likely pathogenic
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- MetaLR 0.89
- MetaSVM 0.55
- SIFT 0.19
- ClinVar: Likely pathogenic (Cardiovascular phenotype; Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy. (PMID 10882995)
- Cited in: A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis. (PMID 10036587)