G719D (p.Gly719Asp) variant of SMARCA4 (P51532)
G719D (p.Gly719Asp) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rhabdoid tumor predisposition syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
G719D (p.Gly719Asp) variant details
- p.Gly719Asp
- rs2088712889
- ClinGen CA404052727
- cosmic curated COSV10441
- ClinVar RCV002246730
- Pathogenic
- Rhabdoid tumor predisposition syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.14
- MetaLR 0.40
- MetaSVM -0.46
- PolyPhen-2 0.11
- SIFT 0.39
- EVE 0.16
- ClinVar: Pathogenic (Rhabdoid tumor predisposition syndrome 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)