H4Q (p.His4Gln) variant of TTR (Transthyretin)
H4Q (p.His4Gln) 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 0.53 / 1. The record also includes published literature and structural context.
H4Q (p.His4Gln) variant details
- p.His4Gln
- rs2144405297
- ClinGen CA402156263
- ClinVar RCV001975522
- Ensembl rs2144405297
- Uncertain significance
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- AlphaMissense 0.09
- MetaLR 0.67
- MetaSVM -0.28
- PolyPhen-2 0.47
- SIFT 0.29
- MutPred 0.26
- 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)