I88L (p.Ile88Leu) variant of TTR (Transthyretin)
I88L (p.Ile88Leu) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperthyroxinemia, dystransthyretinemic; Carpal tunnel syndrome 1; Amyloidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I88L (p.Ile88Leu) variant details
- p.Ile88Leu
- rs121918085
- ClinGen CA256837
- ClinVar RCV000014388
- ClinVar RCV001288934
- Pathogenic
- Hyperthyroxinemia, dystransthyretinemic; Carpal tunnel syndrome 1; Amyloidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.55
- MetaLR 0.49
- MetaSVM -0.54
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Population evidence available
- Structural context available
- Cited in: Genetic microheterogeneity of human transthyretin detected by IEF. (PMID 17503405)
- Cited in: Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. (PMID 8038017)