G23S (p.Gly23Ser) variant of SMARCB1 (Q12824)
G23S (p.Gly23Ser) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; SMARCB1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G23S (p.Gly23Ser) variant details
- p.Gly23Ser
- rs1287987691
- ClinGen CA410930842
- ClinVar RCV001042293
- ClinVar RCV002363582
- Uncertain significance
- Hereditary cancer-predisposing syndrome; SMARCB1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- CADD 26.40
- PolyPhen-2 0.84
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; SMARCB1-related disorde)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.147
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)