R88D (p.Arg88Asp) variant of MBP (Myelin basic protein)
R88D (p.Arg88Asp) in MBP (Myelin basic protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R88D (p.Arg88Asp) variant details
- p.Arg88Asp
- rs1969087699
- gnomAD 18-76979996-CCT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 7.18
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available