T17K (p.Thr17Lys) variant of MBP (Myelin basic protein)
T17K (p.Thr17Lys) 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.
T17K (p.Thr17Lys) variant details
- p.Thr17Lys
- 1000Genomes rs143996211
- ESP rs143996211
- ExAC rs143996211
- TOPMed rs143996211
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.10
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available