H4L (p.His4Leu) variant of TTR (Transthyretin)
H4L (p.His4Leu) 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; Charcot-Marie-Tooth disease; Amyloidosis, hereditary s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
H4L (p.His4Leu) variant details
- p.His4Leu
- rs1157253322
- ClinGen CA402156262
- ClinVar RCV000990081
- ClinVar RCV001173302
- Uncertain significance
- Cardiovascular phenotype; Charcot-Marie-Tooth disease; Amyloidosis, hereditary s
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.20
- MetaLR 0.65
- MetaSVM -0.40
- CADD 5.66
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; Charcot-Marie-Tooth disease; Amyloidos)
- 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)