S43N (p.Ser43Asn) variant of TTR (Transthyretin)
S43N (p.Ser43Asn) 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; Amyloidosis, hereditary systemic 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S43N (p.Ser43Asn) variant details
- p.Ser43Asn
- rs1598844112
- ClinGen CA402156660
- ClinVar RCV000819070
- ClinVar RCV001811504
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.41
- MetaLR 0.82
- MetaSVM 0.50
- CADD 15.30
- PolyPhen-2 0.37
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Amyloidosis, hereditary systemic 1; no)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Population evidence available
- Structural context available
- Cited in: A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. (PMID 10439117)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)