G33R (p.Gly33Arg) variant of SMARCA4 (P51532)
G33R (p.Gly33Arg) in SMARCA4 (P51532) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- rs1060502096
- ClinGen CA16616108
- ClinVar RCV000466701
- TOPMed rs1060502096
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.56
- CADD 27.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- 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)