R13L (p.Arg13Leu) variant of SMARCA4 (P51532)
R13L (p.Arg13Leu) 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 0.42 / 1. The record also includes published literature and structural context.
R13L (p.Arg13Leu) variant details
- p.Arg13Leu
- rs143950084
- ClinGen CA404053947
- ClinVar RCV002647057
- ClinVar RCV003167587
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Rhabdoid tumor predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.15
- MetaLR 0.45
- MetaSVM -0.04
- PolyPhen-2 0.80
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Rhabdoid tumor predispo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)