S45F (p.Ser45Phe) variant of PMP22 (Peripheral myelin protein 22)
S45F (p.Ser45Phe) 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 Charcot-Marie-Tooth disease, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S45F (p.Ser45Phe) variant details
- p.Ser45Phe
- rs1259742235
- ClinGen CA398270896
- cosmic curated COSV56602
- ClinVar RCV001324390
- Uncertain significance
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.18
- CADD 17.40
- PolyPhen-2 0.09
- SIFT 0.30
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)