R93H (p.Arg93His) variant of MBP (Myelin basic protein)
R93H (p.Arg93His) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R93H (p.Arg93His) variant details
- p.Arg93His
- ExAC rs761443800
- TOPMed rs761443800
- gnomAD rs761443800
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.55
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available