P22S (p.Pro22Ser) variant of SMARCA4 (P51532)
P22S (p.Pro22Ser) 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 0.57 / 1. The record also includes published literature and structural context.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- rs2085807805
- ClinGen CA404054044
- ClinVar RCV001036294
- Ensembl rs2085807805
- Uncertain significance
- Rhabdoid tumor predisposition syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- AlphaMissense 0.24
- MetaLR 0.65
- MetaSVM 0.09
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.23
- 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)