M27R (p.Met27Arg) variant of SMARCB1 (Q12824)
M27R (p.Met27Arg) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes experimental measurements, published literature, and structural context.
M27R (p.Met27Arg) variant details
- p.Met27Arg
- rs763994045
- ClinGen CA410930957
- ClinVar RCV001040176
- ClinVar RCV005732250
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.98
- MetaLR 0.72
- MetaSVM 0.38
- PolyPhen-2 0.90
- SIFT 0.04
- MutPred 0.47
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.832
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)