T17M (p.Thr17Met) variant of MBP (Myelin basic protein)
T17M (p.Thr17Met) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T17M (p.Thr17Met) variant details
- p.Thr17Met
- 1000Genomes rs143996211
- ESP rs143996211
- ExAC rs143996211
- TOPMed rs143996211
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.06
- CADD 21.80
- PolyPhen-2 0.05
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available