M27L (p.Met27Leu) variant of SMARCB1 (Q12824)
M27L (p.Met27Leu) 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; Intellectual disability, autosomal dominant 15; Rhabdoid tumor pre. 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.
M27L (p.Met27Leu) variant details
- p.Met27Leu
- rs762676176
- ClinGen CA10145822
- ClinVar RCV001345457
- ClinVar RCV002420424
- Uncertain significance
- not provided; Intellectual disability, autosomal dominant 15; Rhabdoid tumor pre
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.23
- ClinVar: Uncertain significance (not provided; Intellectual disability, autosomal dominant 15; Rh)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)
- Cited in: Rhabdoid Tumor Predisposition Syndrome. (PMID 29215836)