G42S (p.Gly42Ser) variant of TTR (Transthyretin)
G42S (p.Gly42Ser) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G42S (p.Gly42Ser) variant details
- p.Gly42Ser
- rs2144406621
- ClinGen CA402156649
- ClinVar RCV001908150
- Ensembl rs2144406621
- Uncertain significance
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 1.00
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Amyloidosis, hereditary systemic 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)