S70R (p.Ser70Arg) variant of TTR (Transthyretin)
S70R (p.Ser70Arg) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
S70R (p.Ser70Arg) variant details
- p.Ser70Arg
- rs121918076
- ClinGen CA256808
- ClinVar RCV000014371
- ClinVar RCV002415415
- Pathogenic
- Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- AlphaMissense 0.55
- MetaLR 0.78
- MetaSVM 0.16
- PolyPhen-2 0.95
- SIFT 0.01
- EVE 0.25
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Amyloidosis, hereditary)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka. (PMID 1335038)
- Cited in: Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy… (PMID 2363717)