W61* (p.Trp61Ter) variant of PMP22 (Peripheral myelin protein 22)
W61* (p.Trp61Ter) in PMP22 (Peripheral myelin protein 22) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
W61* (p.Trp61Ter) variant details
- p.Trp61Ter
- rs1597608203
- ClinGen CA398268441
- ClinVar RCV000789528
- ClinVar RCV003581719
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)