P7H (p.Pro7His) variant of SMARCA4 (P51532)
P7H (p.Pro7His) 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; Hereditary cancer-predisposing syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
P7H (p.Pro7His) variant details
- p.Pro7His
- rs1568416569
- ClinGen CA404053888
- ClinVar RCV000694817
- ClinVar RCV001014433
- Uncertain significance
- Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-predisposing syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- AlphaMissense 0.24
- MetaLR 0.66
- MetaSVM 0.38
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.17
- ClinVar: Uncertain significance (Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-pred)
- 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)