R13W (p.Arg13Trp) variant of SMARCA4 (P51532)
R13W (p.Arg13Trp) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-predis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R13W (p.Arg13Trp) variant details
- p.Arg13Trp
- rs1568416700
- ClinGen CA404053942
- NCI-TCGA Cosmic COSV6079
- cosmic curated COSV60794
- Uncertain significance
- not provided; Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-predis
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.60
- CADD 26.50
- PolyPhen-2 0.73
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Rhabdoid tumor predisposition syndrome 2; Heredita)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-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)