R37Q (p.Arg37Gln) variant of MBP (Myelin basic protein)
R37Q (p.Arg37Gln) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
R37Q (p.Arg37Gln) variant details
- p.Arg37Gln
- ESP rs145675270
- ExAC rs145675270
- TOPMed rs145675270
- gnomAD rs145675270
- Missense
- Variant Prioritization Score for Impact Estimate 0.0546
- REVEL 0.04
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available