H51N (p.His51Asn) variant of TTR (Transthyretin)
H51N (p.His51Asn) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1; Hyperthyroxinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
H51N (p.His51Asn) variant details
- p.His51Asn
- rs915983905
- ClinGen CA297736918
- ClinVar RCV001954682
- ClinVar RCV002491908
- Conflicting interpretations
- Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1; Hyperthyroxinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.22
- AlphaMissense 0.09
- MetaLR 0.67
- MetaSVM -0.26
- CADD 4.39
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1; Hy)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)