I104S (p.Ile104Ser) variant of TTR (Transthyretin)
I104S (p.Ile104Ser) 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 provided; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
I104S (p.Ile104Ser) variant details
- p.Ile104Ser
- rs121918072
- ClinGen CA256802
- ClinVar RCV000014365
- ClinVar RCV001810859
- Pathogenic
- Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- AlphaMissense 0.46
- MetaLR 0.71
- MetaSVM 0.35
- PolyPhen-2 0.23
- SIFT 0.61
- EVE 0.12
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Amyloidosis, hereditary)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- 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)