D38G (p.Asp38Gly) variant of TTR (Transthyretin)
D38G (p.Asp38Gly) 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 0.95 / 1. The record also includes published literature and structural context.
D38G (p.Asp38Gly) variant details
- p.Asp38Gly
- rs121918098
- ClinGen CA123114
- ClinVar RCV000036373
- UniProt VAR 007549
- Pathogenic
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms. (PMID 19167329)
- Cited in: Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G). (PMID 8579098)