R95C (p.Arg95Cys) variant of PMP22 (Peripheral myelin protein 22)
R95C (p.Arg95Cys) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R95C (p.Arg95Cys) variant details
- p.Arg95Cys
- rs863225028
- gnomAD 17-15231073-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0862
- CADD 0.79
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. (PMID 26467025)
- Cited in: Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability… (PMID 22131320)