K755E (p.Lys755Glu) variant of SMARCA4 (P51532)
K755E (p.Lys755Glu) 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 0.87 / 1. The record also includes published literature and structural context.
K755E (p.Lys755Glu) variant details
- p.Lys755Glu
- rs2146238910
- ClinGen CA404052955
- ClinVar RCV001379457
- Ensembl rs2146238910
- Likely pathogenic
- Rhabdoid tumor predisposition syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- 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)