I127M (p.Ile127Met) variant of TTR (Transthyretin)
I127M (p.Ile127Met) 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; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
I127M (p.Ile127Met) variant details
- p.Ile127Met
- rs751430411
- ClinGen CA402158199
- ClinVar RCV001386306
- ClinVar RCV002357290
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 0.31
- MetaLR 0.85
- MetaSVM 0.63
- PolyPhen-2 0.72
- SIFT 0.02
- EVE 0.28
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Amyloidosis, hereditary systemic 1)
- 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: Hereditary Transthyretin Amyloidosis. (PMID 20301373)