M69K (p.Met69Lys) variant of PMP22 (Peripheral myelin protein 22)
M69K (p.Met69Lys) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease, type I; not provided; Charcot-Marie-Tooth disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
M69K (p.Met69Lys) variant details
- p.Met69Lys
- rs104894620
- ClinGen CA119618
- ClinVar RCV000008947
- ClinVar RCV000494533
- Pathogenic
- Charcot-Marie-Tooth disease, type I; not provided; Charcot-Marie-Tooth disease
- 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: Pathogenic (Charcot-Marie-Tooth disease, type I; not provided; Charcot-Marie)
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Structural context available
- Cited in: Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. (PMID 8252046)
- Cited in: Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. (PMID 8275092)