N75D (p.Asn75Asp) variant of MBP (Myelin basic protein)
N75D (p.Asn75Asp) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
N75D (p.Asn75Asp) variant details
- p.Asn75Asp
- ExAC rs746329133
- gnomAD rs746329133
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.16
- CADD 23.30
- PolyPhen-2 0.34
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available