R8L (p.Arg8Leu) variant of MBP (Myelin basic protein)
R8L (p.Arg8Leu) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- cosmic curated COSV63559
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.22
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available