S67Q (p.Ser67Gln) variant of MBP (Myelin basic protein)
S67Q (p.Ser67Gln) in MBP (Myelin basic protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S67Q (p.Ser67Gln) variant details
- p.Ser67Gln
- gnomAD 18-76980397-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 3.16
- Population evidence available
- Structural context available
- Literature evidence available