P22L (p.Pro22Leu) variant of TTR (Transthyretin)
P22L (p.Pro22Leu) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- rs1215630426
- ClinGen CA402156368
- cosmic curated COSV10724
- ClinVar RCV001988564
- Uncertain significance
- Amyloidosis, hereditary systemic 1; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.43
- MetaLR 0.84
- MetaSVM 0.79
- CADD 21.90
- SIFT 0.02
- ClinVar: Uncertain significance (Amyloidosis, hereditary systemic 1; Cardiovascular phenotype)
- 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)