R8Q (p.Arg8Gln) variant of MBP (Myelin basic protein)
R8Q (p.Arg8Gln) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- cosmic curated COSV63556
- ExAC rs200267661
- TOPMed rs200267661
- gnomAD rs200267661
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.13
- CADD 23.80
- PolyPhen-2 0.95
- SIFT 0.04
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available