G25R (p.Gly25Arg) variant of SMARCA4 (P51532)
G25R (p.Gly25Arg) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-predisposing syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- rs1568416887
- Ensembl rs1568416887
- ClinGen CA404054067
- ClinVar RCV000698344
- Uncertain significance
- Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-predisposing syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- AlphaMissense 0.87
- MetaLR 0.63
- MetaSVM 0.37
- PolyPhen-2 0.89
- SIFT 0.00
- MutPred 0.31
- ClinVar: Uncertain significance (Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-pred)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)