E62G (p.Glu62Gly) variant of TTR (Transthyretin)
E62G (p.Glu62Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
E62G (p.Glu62Gly) variant details
- p.Glu62Gly
- rs11541796
- ClinGen CA256806
- ClinVar RCV000014370
- UniProt VAR 007558
- Pathogenic
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- AlphaMissense 0.10
- MetaLR 0.83
- MetaSVM 0.44
- PolyPhen-2 0.00
- SIFT 0.14
- EVE 0.12
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Familial amyloid polyneuropathy related to transthyretin Gly42 in a Japanese family. (PMID 1353861)
- Cited in: Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy… (PMID 2363717)