M1K (p.Met1Lys) variant of SUFU (Suppressor of fused homolog)
M1K (p.Met1Lys) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs2544829669
- ClinGen CA377885976
- ClinVar RCV003306784
- Likely pathogenic
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)