R93C (p.Arg93Cys) variant of MBP (Myelin basic protein)
R93C (p.Arg93Cys) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R93C (p.Arg93Cys) variant details
- p.Arg93Cys
- cosmic curated COSV62829
- ExAC rs767554831
- TOPMed rs767554831
- gnomAD rs767554831
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.81
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available