R157Q (p.Arg157Gln) variant of PMP22 (Peripheral myelin protein 22)
R157Q (p.Arg157Gln) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar 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 0.83 / 1. The record also includes population frequency data and structural context.
R157Q (p.Arg157Gln) variant details
- p.Arg157Gln
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10039
- Uncertain significance
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.92
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I)
- UniProt: Uncertain significance (in DSS)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available