Q66P (p.Gln66Pro) variant of PMP22 (Peripheral myelin protein 22)
Q66P (p.Gln66Pro) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary liability to pressure palsies. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
Q66P (p.Gln66Pro) variant details
- p.Gln66Pro
- rs1907131144
- ClinGen CA398268346
- ClinVar RCV001175246
- Ensembl rs1907131144
- Uncertain significance
- Hereditary liability to pressure palsies
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- AlphaMissense 0.98
- MetaLR 0.87
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Uncertain significance (Hereditary liability to pressure palsies)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Neuropathy with Liability to Pressure Palsies. (PMID 20301566)