W61L (p.Trp61Leu) variant of TTR (Transthyretin)
W61L (p.Trp61Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
W61L (p.Trp61Leu) variant details
- p.Trp61Leu
- rs1567945702
- ClinGen CA402156850
- ClinVar RCV001389003
- Ensembl rs1567945702
- Pathogenic
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- AlphaMissense 0.84
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.46
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping… (PMID 11866053)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)