S23C (p.Ser23Cys) variant of SMARCA4 (P51532)
S23C (p.Ser23Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
S23C (p.Ser23Cys) variant details
- p.Ser23Cys
- rs1555750712
- ClinGen CA404054059
- ClinVar RCV001042156
- Ensembl rs1555750712
- Uncertain significance
- Rhabdoid tumor predisposition syndrome 2
- 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)
- 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)