F25V (p.Phe25Val) variant of SMARCB1 (Q12824)
F25V (p.Phe25Val) in SMARCB1 (Q12824) 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 0.53 / 1. The record also includes experimental measurements, published literature, and structural context.
F25V (p.Phe25Val) variant details
- p.Phe25Val
- rs1928046958
- ClinGen CA410930894
- ClinVar RCV002384884
- TOPMed rs1928046958
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.36
- MetaLR 0.58
- MetaSVM -0.01
- PolyPhen-2 0.03
- SIFT 0.43
- MutPred 0.32
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.326
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)