R69L (p.Arg69Leu) variant of MBP (Myelin basic protein)
R69L (p.Arg69Leu) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R69L (p.Arg69Leu) variant details
- p.Arg69Leu
- 1000Genomes rs529411261
- ExAC rs529411261
- TOPMed rs529411261
- gnomAD rs529411261
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.06
- CADD 20.80
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available