L32V (p.Leu32Val) variant of TTR (Transthyretin)
L32V (p.Leu32Val) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Amyloidosis, hereditary systemic 1; Amyloidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
L32V (p.Leu32Val) variant details
- p.Leu32Val
- rs2144406525
- ClinGen CA402156526
- ClinVar RCV001389002
- ClinVar RCV002377579
- Pathogenic
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1; Amyloidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- AlphaMissense 0.21
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.21
- ClinVar: Pathogenic (Cardiovascular phenotype; Amyloidosis, hereditary systemic 1; Am)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)