T70M (p.Thr70Met) variant of MBP (Myelin basic protein)
T70M (p.Thr70Met) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
T70M (p.Thr70Met) variant details
- p.Thr70Met
- rs1969089291
- gnomAD 18-76980012-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 6.67
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available