M4T (p.Met4Thr) variant of SMARCB1 (Q12824)
M4T (p.Met4Thr) 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; SMARCB1-related schwannom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M4T (p.Met4Thr) variant details
- p.Met4Thr
- rs371477865
- ClinGen CA10145815
- ClinVar RCV001349744
- ClinVar RCV002350653
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; SMARCB1-related schwannom
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; SMARCB1-r)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.599
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Rhabdoid Tumor Predisposition Syndrome. (PMID 29215836)