A49T (p.Ala49Thr) variant of MBP (Myelin basic protein)
A49T (p.Ala49Thr) 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 0.28 / 1. The record also includes population frequency data and structural context.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- NCI-TCGA Cosmic COSV6282
- cosmic curated COSV62829
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.19
- CADD 22.70
- PolyPhen-2 0.09
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available