R13Q (p.Arg13Gln) variant of SMARCA4 (P51532)
R13Q (p.Arg13Gln) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Intellectual disability, autosomal dominant 16; Hereditary cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R13Q (p.Arg13Gln) variant details
- p.Arg13Gln
- rs143950084
- ClinGen CA9203385
- ClinVar RCV000559549
- ClinVar RCV000573192
- Conflicting interpretations
- not provided; Intellectual disability, autosomal dominant 16; Hereditary cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.40
- AlphaMissense 0.15
- MetaLR 0.45
- MetaSVM -0.04
- CADD 23.30
- PolyPhen-2 0.80
- ClinVar: Conflicting classifications of pathogenicity (not provided; Intellectual disability, autosomal dominant 16; He)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- 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)