C30R (p.Cys30Arg) variant of TTR (Transthyretin)
C30R (p.Cys30Arg) 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; not provided; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
C30R (p.Cys30Arg) variant details
- p.Cys30Arg
- rs121918083
- ClinGen CA256833
- ClinVar RCV000014386
- ClinVar RCV000993524
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.90
- MetaLR 0.92
- MetaSVM 1.06
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Amyloidosis, hereditary)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Population evidence available
- Structural context available
- Cited in: A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. (PMID 1362222)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)