S22Y (p.Ser22Tyr) variant of PMP22 (Peripheral myelin protein 22)
S22Y (p.Ser22Tyr) 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 not provided; Charcot-Marie-Tooth disease, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S22Y (p.Ser22Tyr) variant details
- p.Ser22Tyr
- rs104894625
- ClinGen CA398271674
- ClinVar RCV006436806
- ClinVar RCV006556149
- Uncertain significance
- not provided; Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.73
- CADD 32.00
- PolyPhen-2 0.88
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Charcot-Marie-Tooth disease, type I)
- EBI: Pathogenic (in HNPP and CMT1A)
- UniProt: Pathogenic (in HNPP and CMT1A)
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)