S72P (p.Ser72Pro) variant of TTR (Transthyretin)
S72P (p.Ser72Pro) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
S72P (p.Ser72Pro) variant details
- p.Ser72Pro
- rs2144409444
- ClinGen CA402156916
- ClinVar RCV001534617
- ClinVar RCV002424971
- Pathogenic
- Amyloidosis, hereditary systemic 1; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- AlphaMissense 0.49
- MetaLR 0.72
- MetaSVM -0.08
- PolyPhen-2 0.52
- SIFT 0.18
- EVE 0.30
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1; Cardiovascular phenotype)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Transthyretin mutations in health and disease. (PMID 7599630)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)