L32P (p.Leu32Pro) variant of TTR (Transthyretin)
L32P (p.Leu32Pro) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; not specified; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
L32P (p.Leu32Pro) variant details
- p.Leu32Pro
- rs121918094
- ClinGen CA256853
- ClinVar RCV000014399
- ClinVar RCV001001339
- Pathogenic
- Cardiovascular phenotype; not specified; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Cardiovascular phenotype; not specified; Amyloidosis, hereditary)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. (PMID 10071047)
- Cited in: Genetic microheterogeneity of human transthyretin detected by IEF. (PMID 17503405)