M2I (p.Met2Ile) variant of SMARCB1 (Q12824)
M2I (p.Met2Ile) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M2I (p.Met2Ile) variant details
- p.Met2Ile
- rs2517652401
- ClinGen CA410930363
- ClinVar RCV003559439
- ClinVar RCV005495579
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.199
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)