D37H (p.Asp37His) variant of PMP22 (Peripheral myelin protein 22)
D37H (p.Asp37His) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
D37H (p.Asp37His) variant details
- p.Asp37His
- rs1444447898
- ClinGen CA398271064
- ClinVar RCV003488290
- gnomAD rs1444447898
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.70
- MetaLR 0.76
- MetaSVM 0.41
- PolyPhen-2 1.00
- SIFT 0.20
- EVE 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in CMT1A)
- UniProt: Uncertain significance (in CMT1A)
- Structural context available