N18D (p.Asn18Asp) variant of MBP (Myelin basic protein)
N18D (p.Asn18Asp) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
N18D (p.Asn18Asp) variant details
- p.Asn18Asp
- gnomAD rs1167148076
- Missense
- Variant Prioritization Score for Impact Estimate 0.0919
- REVEL 0.03
- CADD 3.68
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available