M1T (p.Met1Thr) variant of B2M (Beta-2-microglobulin)
M1T (p.Met1Thr) in B2M (Beta-2-microglobulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Amyloidosis, hereditary systemic 6; Hypoproteinemia, hypercatabolic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1057519879
- ClinVar RCV005009638
- Likely pathogenic
- Amyloidosis, hereditary systemic 6; Hypoproteinemia, hypercatabolic
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- MetaLR 0.00
- MetaSVM -0.72
- PolyPhen-2 0.28
- SIFT 0.00
- MutPred 0.90
- ClinVar: Likely pathogenic (Amyloidosis, hereditary systemic 6; Hypoproteinemia, hypercatabo)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available