S40N (p.Ser40Asn) variant of MBP (Myelin basic protein)
S40N (p.Ser40Asn) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S40N (p.Ser40Asn) variant details
- p.Ser40Asn
- rs572017418
- gnomAD 18-76984778-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- CADD 2.94
- Population evidence available
- Structural context available
- Literature evidence available