E41K (p.Glu41Lys) variant of MBP (Myelin basic protein)
E41K (p.Glu41Lys) 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.
E41K (p.Glu41Lys) variant details
- p.Glu41Lys
- ExAC rs758491700
- gnomAD rs758491700
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.16
- CADD 20.20
- PolyPhen-2 0.17
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available