N54K (p.Asn54Lys) variant of MBP (Myelin basic protein)
N54K (p.Asn54Lys) 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.
N54K (p.Asn54Lys) variant details
- p.Asn54Lys
- ExAC rs754034418
- TOPMed rs754034418
- gnomAD rs754034418
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.19
- CADD 25.60
- PolyPhen-2 0.31
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available