Y732H (p.Tyr732His) variant of SMARCA4 (P51532)
Y732H (p.Tyr732His) 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 0.81 / 1. The record also includes published literature and structural context.
Y732H (p.Tyr732His) variant details
- p.Tyr732His
- rs2146236249
- ClinGen CA404052802
- ClinVar RCV003617319
- Ensembl rs2146236249
- Likely pathogenic
- Rhabdoid tumor predisposition syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Rhabdoid tumor predisposition syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely 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)