V50L (p.Val50Leu) variant of TTR (Transthyretin)
V50L (p.Val50Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
V50L (p.Val50Leu) variant details
- p.Val50Leu
- rs28933979
- ClinGen CA402156746
- ClinVar RCV003050501
- ClinVar RCV006434527
- Pathogenic
- Amyloidosis, hereditary systemic 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- AlphaMissense 0.32
- MetaLR 0.83
- MetaSVM 0.53
- PolyPhen-2 0.07
- SIFT 0.69
- EVE 0.09
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1; not provided)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of… (PMID 10611950)
- Cited in: A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy. (PMID 1520326)