G56R (p.Gly56Arg) variant of MBP (Myelin basic protein)
G56R (p.Gly56Arg) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G56R (p.Gly56Arg) variant details
- p.Gly56Arg
- TOPMed rs934575568
- gnomAD rs934575568
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.19
- CADD 25.20
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available