R95K (p.Arg95Lys) variant of PMP22 (Peripheral myelin protein 22)
R95K (p.Arg95Lys) 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 specified; Charcot-Marie-Tooth disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R95K (p.Arg95Lys) variant details
- p.Arg95Lys
- rs1555565234
- ClinGen CA398267475
- ClinVar RCV000516786
- ClinVar RCV001173923
- Uncertain significance
- not specified; Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.68
- CADD 23.40
- PolyPhen-2 0.92
- SIFT 0.37
- ClinVar: Uncertain significance (not specified; Charcot-Marie-Tooth disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)