L78H (p.Leu78His) variant of TTR (Transthyretin)
L78H (p.Leu78His) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
L78H (p.Leu78His) variant details
- p.Leu78His
- rs121918069
- ClinGen CA256796
- ClinVar RCV000014362
- ClinVar RCV000159437
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 0.85
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Amyloidosis, hereditary)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Population evidence available
- Structural context available
- Cited in: Transthyretin-associated neuropathic amyloidosis. Pathogenesis and treatment. (PMID 11261421)
- Cited in: Familial primary systemic amyloidosis: an experimental, genetic and clinical study. (PMID 13367520)