A80T (p.Ala80Thr) variant of MBP (Myelin basic protein)
A80T (p.Ala80Thr) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A80T (p.Ala80Thr) variant details
- p.Ala80Thr
- Ensembl rs1971696261
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.23
- CADD 24.30
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available