R148H (p.Arg148His) variant of SMARCE1 (Q969G3)
R148H (p.Arg148His) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R148H (p.Arg148His) variant details
- p.Arg148His
- rs755039445
- ClinGen CA8545241
- NCI-TCGA Cosmic COSV5286
- cosmic curated COSV52860
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.22
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)