M27T (p.Met27Thr) variant of SMARCA4 (P51532)
M27T (p.Met27Thr) 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 0.59 / 1. The record also includes published literature and structural context.
M27T (p.Met27Thr) variant details
- p.Met27Thr
- rs2145722539
- ClinGen CA404054097
- ClinVar RCV002587798
- Ensembl rs2145722539
- Uncertain significance
- Rhabdoid tumor predisposition syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- AlphaMissense 0.86
- MetaLR 0.62
- MetaSVM 0.29
- PolyPhen-2 0.72
- SIFT 0.00
- MutPred 0.33
- 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)