A5T (p.Ala5Thr) variant of MBP (Myelin basic protein)
A5T (p.Ala5Thr) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- cosmic curated COSV63558
- 1000Genomes rs149191307
- ESP rs149191307
- ExAC rs149191307
- Missense
- Variant Prioritization Score for Impact Estimate 0.0734
- REVEL 0.04
- CADD 9.18
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available