P73R (p.Pro73Arg) variant of MBP (Myelin basic protein)
P73R (p.Pro73Arg) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P73R (p.Pro73Arg) variant details
- p.Pro73Arg
- 1000Genomes rs139814021
- ESP rs139814021
- ExAC rs139814021
- TOPMed rs139814021
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.45
- CADD 25.40
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available