A51T (p.Ala51Thr) variant of MBP (Myelin basic protein)
A51T (p.Ala51Thr) in MBP (Myelin basic protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A51T (p.Ala51Thr) variant details
- p.Ala51Thr
- NCI-TCGA TCGA novel
- gnomAD rs1971702821
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.09
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available