S57* (p.Ser57Ter) variant of PMP22 (Peripheral myelin protein 22)
S57* (p.Ser57Ter) in PMP22 (Peripheral myelin protein 22) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
S57* (p.Ser57Ter) variant details
- p.Ser57Ter
- rs1909079392
- ClinGen CA398270684
- ClinVar RCV001173913
- Ensembl rs1909079392
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.865
- CADD 39.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)