M1? variant of B2M (Beta-2-microglobulin)
M1? in B2M (Beta-2-microglobulin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
M1? variant details
- rs1023835002
- NCI-TCGA Cosmic COSV6256
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- MetaLR 0.01
- MetaSVM -0.68
- PolyPhen-2 0.83
- SIFT 0.00
- MutPred 0.86
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)
- Cited in: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for… (PMID 23619274)