C30A (p.Cys30Ala) variant of TTR (Transthyretin)
C30A (p.Cys30Ala) in TTR (Transthyretin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AMYLD1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
C30A (p.Cys30Ala) variant details
- p.Cys30Ala
- rs1598845097
- NCI-TCGA TCGA novel
- ClinGen CA402156927
- ClinVar RCV002024760
- Pathogenic
- in AMYLD1
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 0.61
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.37
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)