I127V (p.Ile127Val) variant of TTR (Transthyretin)
I127V (p.Ile127Val) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1; Hyperthyroxinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
I127V (p.Ile127Val) variant details
- p.Ile127Val
- rs121918089
- ClinGen CA256843
- ClinVar RCV000014392
- ClinVar RCV001090344
- Pathogenic
- Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1; Hyperthyroxinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- AlphaMissense 0.13
- MetaLR 0.67
- MetaSVM 0.14
- PolyPhen-2 0.01
- SIFT 0.40
- EVE 0.17
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1; Hy)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Genetic microheterogeneity of human transthyretin detected by IEF. (PMID 17503405)
- Cited in: Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107). (PMID 7914929)