H51D (p.His51Asp) variant of TTR (Transthyretin)
H51D (p.His51Asp) 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 0.45 / 1. The record also includes published literature and structural context.
H51D (p.His51Asp) variant details
- p.His51Asp
- rs915983905
- ClinGen CA402156754
- ClinVar RCV003515508
- Uncertain significance
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.09
- MetaLR 0.67
- MetaSVM -0.26
- PolyPhen-2 0.00
- SIFT 0.24
- EVE 0.08
- 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)