K14E (p.Lys14Glu) variant of MBP (Myelin basic protein)
K14E (p.Lys14Glu) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K14E (p.Lys14Glu) variant details
- p.Lys14Glu
- TOPMed rs973802590
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.96
- SIFT 0.12
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available