L9F (p.Leu9Phe) variant of TTR (Transthyretin)
L9F (p.Leu9Phe) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- rs762243340
- ClinGen CA8928379
- ClinVar RCV000236970
- ClinVar RCV000647356
- Uncertain significance
- Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.51
- MetaLR 0.89
- MetaSVM 0.94
- CADD 22.40
- PolyPhen-2 0.62
- SIFT 0.10
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Amyloidosis, hereditary)
- 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)