M33K (p.Met33Lys) variant of TTR (Transthyretin)
M33K (p.Met33Lys) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
M33K (p.Met33Lys) variant details
- p.Met33Lys
- rs768273993
- ClinGen CA402156541
- ClinVar RCV003515502
- Uncertain significance
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- AlphaMissense 0.22
- MetaLR 0.74
- MetaSVM 0.11
- PolyPhen-2 0.29
- SIFT 0.75
- EVE 0.09
- ClinVar: Uncertain significance (Amyloidosis, hereditary systemic 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)