N43S (p.Asn43Ser) variant of MBP (Myelin basic protein)
N43S (p.Asn43Ser) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
N43S (p.Asn43Ser) variant details
- p.Asn43Ser
- ExAC rs752790125
- TOPMed rs752790125
- gnomAD rs752790125
- Missense
- Variant Prioritization Score for Impact Estimate 0.0572
- REVEL 0.05
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available