Q86* (p.Gln86Ter) variant of PMP22 (Peripheral myelin protein 22)
Q86* (p.Gln86Ter) 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 0.88 / 1. The record also includes published literature and structural context.
Q86* (p.Gln86Ter) variant details
- p.Gln86Ter
- rs11545341
- ClinGen CA398267972
- ClinVar RCV000789532
- ClinVar RCV000992663
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 0.94
- MetaLR 0.87
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)