N43K (p.Asn43Lys) variant of MBP (Myelin basic protein)
N43K (p.Asn43Lys) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
N43K (p.Asn43Lys) variant details
- p.Asn43Lys
- ExAC rs760137415
- TOPMed rs760137415
- gnomAD rs760137415
- Missense
- Variant Prioritization Score for Impact Estimate 0.0757
- REVEL 0.08
- CADD 2.97
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available