D37V (p.Asp37Val) variant of PMP22 (Peripheral myelin protein 22)
D37V (p.Asp37Val) 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 1a, with focally folded myelin sheaths. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
D37V (p.Asp37Val) variant details
- p.Asp37Val
- rs104894627
- ClinGen CA119626
- ClinVar RCV000008955
- UniProt VAR 009660
- Pathogenic
- Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.98
- MetaLR 0.84
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease, type 1a, with focally folded myelin)
- EBI: Pathogenic (in CMT1A)
- UniProt: Pathogenic (in CMT1A)
- Structural context available
- Cited in: Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. (PMID 10489052)
- Cited in: Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth… (PMID 10737979)