T1032N (p.Thr1032Asn) variant of SMARCA4 (P51532)
T1032N (p.Thr1032Asn) 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 0.64 / 1. The record also includes published literature and structural context.
T1032N (p.Thr1032Asn) variant details
- p.Thr1032Asn
- rs2146496372
- ClinGen CA404059155
- ClinVar RCV002881065
- Ensembl rs2146496372
- Likely pathogenic
- Rhabdoid tumor predisposition syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- AlphaMissense 0.97
- MetaLR 0.69
- MetaSVM 0.59
- PolyPhen-2 0.08
- SIFT 0.02
- EVE 0.55
- 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)