C85* (p.Cys85Ter) variant of PMP22 (Peripheral myelin protein 22)
C85* (p.Cys85Ter) 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 0.72 / 1. The record also includes published literature and structural context.
C85* (p.Cys85Ter) variant details
- p.Cys85Ter
- rs755701957
- ClinGen CA398267979
- ClinVar RCV001173914
- TOPMed rs755701957
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.716
- AlphaMissense 0.68
- MetaLR 0.76
- MetaSVM 0.53
- PolyPhen-2 0.94
- SIFT 0.18
- EVE 0.47
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)