P7R (p.Pro7Arg) variant of SMARCA4 (P51532)
P7R (p.Pro7Arg) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Rhabdoid tumor predisposition syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
P7R (p.Pro7Arg) variant details
- p.Pro7Arg
- rs1568416569
- ClinGen CA404053889
- ClinVar RCV001365427
- ClinVar RCV002420804
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Rhabdoid tumor predisposition syndrome
- 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 (Hereditary cancer-predisposing syndrome; Rhabdoid tumor predispo)
- 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)