E31V (p.Glu31Val) variant of SMARCB1 (Q12824)
E31V (p.Glu31Val) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E31V (p.Glu31Val) variant details
- p.Glu31Val
- rs267607072
- ClinGen CA119236
- ClinVar RCV000008496
- ClinVar RCV003231093
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.90
- CADD 35.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.533
- Cited in: Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. (PMID 19582488)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)