A5S (p.Ala5Ser) variant of MBP (Myelin basic protein)
A5S (p.Ala5Ser) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- 1000Genomes rs149191307
- ESP rs149191307
- ExAC rs149191307
- TOPMed rs149191307
- Missense
- Variant Prioritization Score for Impact Estimate 0.079
- REVEL 0.05
- CADD 7.45
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available