V50M (p.Val50Met) variant of TTR (Transthyretin)
V50M (p.Val50Met) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Carpal tunnel syndrome 1; Hyperthyroxinemia, dystranst. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V50M (p.Val50Met) variant details
- p.Val50Met
- rs28933979
- ClinGen CA256790
- ClinVar RCV000014359
- ClinVar RCV000159423
- Pathogenic
- Cardiovascular phenotype; Carpal tunnel syndrome 1; Hyperthyroxinemia, dystranst
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.71
- AlphaMissense 0.32
- MetaLR 0.83
- MetaSVM 0.53
- CADD 23.60
- PolyPhen-2 0.07
- ClinVar: Pathogenic (Cardiovascular phenotype; Carpal tunnel syndrome 1; Hyperthyroxi)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Population evidence available
- Structural context available
- Cited in: Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by… (PMID 10453736)
- Cited in: Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. (PMID 10465115)