S22F (p.Ser22Phe) variant of PMP22 (Peripheral myelin protein 22)
S22F (p.Ser22Phe) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease, type IA; Hereditary liability to pressure palsies. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S22F (p.Ser22Phe) variant details
- p.Ser22Phe
- rs104894625
- ClinGen CA254390
- ClinVar RCV000008958
- ClinVar RCV000008959
- Pathogenic
- Charcot-Marie-Tooth disease, type IA; Hereditary liability to pressure palsies
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.75
- CADD 32.00
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease, type IA; Hereditary liability to pr)
- EBI: Pathogenic (in HNPP and CMT1A)
- UniProt: Pathogenic (in HNPP and CMT1A)
- Population evidence available
- Structural context available
- Cited in: A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A… (PMID 15205993)
- Cited in: Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. (PMID 10489052)