P73H (p.Pro73His) variant of MBP (Myelin basic protein)
P73H (p.Pro73His) in MBP (Myelin basic protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P73H (p.Pro73His) variant details
- p.Pro73His
- gnomAD 18-76980420-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0802
- CADD 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available