G150V (p.Gly150Val) variant of PMP22 (Peripheral myelin protein 22)
G150V (p.Gly150Val) 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; Charcot-Marie-Tooth disease, type IA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G150V (p.Gly150Val) variant details
- p.Gly150Val
- rs879253954
- ClinGen CA398739500
- ClinVar RCV000499331
- ClinVar RCV001857035
- Pathogenic
- Charcot-Marie-Tooth disease, type I; Charcot-Marie-Tooth disease, type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease, type I; Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)