L28M (p.Leu28Met) variant of SMARCA4 (P51532)
L28M (p.Leu28Met) 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; Rhabdoid tumor predisposition syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L28M (p.Leu28Met) variant details
- p.Leu28Met
- rs776688705
- ClinGen CA9203394
- ClinVar RCV000646807
- ClinVar RCV005278625
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Rhabdoid tumor predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.26
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Rhabdoid tumor predispo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)