G9D (p.Gly9Asp) variant of SMARCA4 (P51532)
G9D (p.Gly9Asp) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Rhabdoid tumor predisposition syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
G9D (p.Gly9Asp) variant details
- p.Gly9Asp
- rs2145720650
- ClinGen CA404053902
- ClinVar RCV001915684
- ClinVar RCV002441013
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Rhabdoid tumor predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- AlphaMissense 0.18
- MetaLR 0.68
- MetaSVM 0.44
- PolyPhen-2 1.00
- SIFT 0.06
- MutPred 0.19
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Rhabdoid tumor predispo)
- 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)