E60K (p.Glu60Lys) variant of PMP22 (Peripheral myelin protein 22)
E60K (p.Glu60Lys) 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; Charcot-Marie-Tooth disease, type IA; Inbor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E60K (p.Glu60Lys) variant details
- p.Glu60Lys
- rs2508211197
- ClinGen CA398270649
- ClinVar RCV002404200
- ClinVar RCV003581861
- Uncertain significance
- Charcot-Marie-Tooth disease, type I; Charcot-Marie-Tooth disease, type IA; Inbor
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.66
- CADD 34.00
- PolyPhen-2 0.64
- SIFT 0.18
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I; Charcot-Marie-Tooth disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)