S23Y (p.Ser23Tyr) variant of SMARCA4 (P51532)
S23Y (p.Ser23Tyr) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-predisposing syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
S23Y (p.Ser23Tyr) variant details
- p.Ser23Tyr
- rs1555750712
- ClinGen CA404054057
- ClinVar RCV000571054
- ClinVar RCV003617835
- Uncertain significance
- Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-predisposing syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- AlphaMissense 0.65
- MetaLR 0.75
- MetaSVM 0.64
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.22
- ClinVar: Uncertain significance (Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-pred)
- 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)