R1157W (p.Arg1157Trp) variant of SMARCA4 (P51532)
R1157W (p.Arg1157Trp) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rhabdoid tumor predisposition syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R1157W (p.Arg1157Trp) variant details
- p.Arg1157Trp
- rs281875230
- ClinGen CA404063022
- NCI-TCGA Cosmic COSV6078
- cosmic curated COSV60789
- Likely pathogenic
- Rhabdoid tumor predisposition syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.76
- AlphaMissense 1.00
- MetaLR 0.76
- MetaSVM 0.87
- CADD 28.60
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Rhabdoid tumor predisposition syndrome 2)
- EBI: Pathogenic (in CSS4)
- UniProt: Pathogenic (in CSS4)
- Population evidence available
- 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)