D37N (p.Asp37Asn) variant of PMP22 (Peripheral myelin protein 22)
D37N (p.Asp37Asn) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
D37N (p.Asp37Asn) variant details
- p.Asp37Asn
- rs1444447898
- ClinGen CA398271067
- ClinVar RCV002833787
- gnomAD rs1444447898
- Uncertain significance
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.54
- AlphaMissense 0.70
- MetaLR 0.76
- MetaSVM 0.41
- CADD 25.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance (in CMT1A)
- UniProt: Uncertain significance (in CMT1A)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)