P14E (p.Pro14Glu) variant of SMARCA4 (P51532)
P14E (p.Pro14Glu) 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 record also includes published literature and structural context.
P14E (p.Pro14Glu) variant details
- p.Pro14Glu
- rs2145721177
- ClinGen CA2499225261
- ClinVar RCV001369571
- Ensembl rs2145721177
- Uncertain significance
- Rhabdoid tumor predisposition syndrome 2
- Missense
- 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)