F64S (p.Phe64Ser) variant of TTR (Transthyretin)
F64S (p.Phe64Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
F64S (p.Phe64Ser) variant details
- p.Phe64Ser
- rs104894665
- ClinGen CA123116
- ClinVar RCV000014403
- ClinVar RCV002408461
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- AlphaMissense 0.71
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.21
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Transthyretin Ser-44 mutation in a case with vitreous amyloidosis. (PMID 11812437)
- Cited in: Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping… (PMID 11866053)