P4Q (p.Pro4Gln) variant of SMARCA4 (P51532)
P4Q (p.Pro4Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
P4Q (p.Pro4Gln) variant details
- p.Pro4Gln
- rs2145720277
- ClinGen CA404053856
- ClinVar RCV002346985
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- AlphaMissense 0.59
- MetaLR 0.78
- MetaSVM 0.71
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.26
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)