S72* (p.Ser72Ter) variant of PMP22 (Peripheral myelin protein 22)
S72* (p.Ser72Ter) in PMP22 (Peripheral myelin protein 22) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DSS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
S72* (p.Ser72Ter) variant details
- p.Ser72Ter
- rs104894621
- ClinGen CA398268233
- ClinVar RCV002000141
- Ensembl rs104894621
- Pathogenic
- in DSS
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)