P58S (p.Pro58Ser) variant of PMP22 (Peripheral myelin protein 22)
P58S (p.Pro58Ser) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P58S (p.Pro58Ser) variant details
- p.Pro58Ser
- rs772242644
- ClinGen CA8403419
- ClinVar RCV001212797
- ExAC rs772242644
- Uncertain significance
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.20
- CADD 1.50
- PolyPhen-2 0.00
- SIFT 0.50
- 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 2.7e-06)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)