R1203C (p.Arg1203Cys) variant of SMARCA4 (P51532)
R1203C (p.Arg1203Cys) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Intellectual disability, autosomal dominant 16; Rhabdoid tumor predisposition sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R1203C (p.Arg1203Cys) variant details
- p.Arg1203Cys
- rs2146649701
- ClinGen CA404065370
- cosmic curated COSV60807
- ClinVar RCV003618134
- Pathogenic
- Intellectual disability, autosomal dominant 16; Rhabdoid tumor predisposition sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Intellectual disability, autosomal dominant 16; Rhabdoid tumor p)
- 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)