H12Y (p.His12Tyr) variant of PMP22 (Peripheral myelin protein 22)
H12Y (p.His12Tyr) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dejerine-Sottas disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
H12Y (p.His12Tyr) variant details
- p.His12Tyr
- rs2150710219
- ClinGen CA398271733
- ClinVar RCV002251247
- Ensembl rs2150710219
- Likely pathogenic
- Dejerine-Sottas disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.77
- CADD 27.70
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Likely pathogenic (Dejerine-Sottas disease)
- EBI: Likely pathogenic (in DSS)
- UniProt: Likely pathogenic (in DSS)
- Population evidence available
- Structural context available