V50G (p.Val50Gly) variant of TTR (Transthyretin)
V50G (p.Val50Gly) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
V50G (p.Val50Gly) variant details
- p.Val50Gly
- rs79977247
- ClinGen CA123118
- ClinVar RCV001857350
- UniProt VAR 038962
- Pathogenic
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.52
- MetaLR 0.91
- MetaSVM 1.17
- PolyPhen-2 0.43
- SIFT 0.02
- EVE 0.23
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Familial oculoleptomeningeal amyloidosis. (PMID 7417777)
- Cited in: Transthyretin amyloidosis: a new mutation associated with dementia. (PMID 9066351)