P12H (p.Pro12His) variant of SMARCA4 (P51532)
P12H (p.Pro12His) 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 0.68 / 1. The record also includes published literature and structural context.
P12H (p.Pro12His) variant details
- p.Pro12His
- rs1201812441
- ClinGen CA404053935
- ClinVar RCV003507098
- TOPMed rs1201812441
- Uncertain significance
- Rhabdoid tumor predisposition syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- AlphaMissense 0.40
- MetaLR 0.75
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.18
- 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)