S58F (p.Ser58Phe) variant of MBP (Myelin basic protein)
S58F (p.Ser58Phe) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S58F (p.Ser58Phe) variant details
- p.Ser58Phe
- cosmic curated COSV62828
- 1000Genomes rs140157048
- ESP rs140157048
- ExAC rs140157048
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.18
- CADD 23.20
- PolyPhen-2 0.26
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available