S67F (p.Ser67Phe) variant of MBP (Myelin basic protein)
S67F (p.Ser67Phe) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S67F (p.Ser67Phe) variant details
- p.Ser67Phe
- ExAC rs776127568
- gnomAD rs776127568
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.40
- CADD 27.20
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available