M69R (p.Met69Arg) variant of PMP22 (Peripheral myelin protein 22)
M69R (p.Met69Arg) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-Tooth disease, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
M69R (p.Met69Arg) variant details
- p.Met69Arg
- rs104894620
- ClinGen CA398268285
- ClinVar RCV000790164
- ClinVar RCV005092377
- Likely pathogenic
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 0.98
- MetaLR 0.87
- MetaSVM 0.95
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease, type I)
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)