W39* (p.Trp39Ter) variant of PMP22 (Peripheral myelin protein 22)
W39* (p.Trp39Ter) 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 0.96 / 1. The record also includes structural context.
W39* (p.Trp39Ter) variant details
- p.Trp39Ter
- rs797044846
- ClinGen CA10604162
- cosmic curated COSV10039
- ClinVar RCV000297207
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available