A26V (p.Ala26Val) variant of SMARCA4 (P51532)
A26V (p.Ala26Val) 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 0.47 / 1. The record also includes published literature and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- rs1599928845
- ClinGen CA404054088
- cosmic curated COSV60797
- ClinVar RCV000815719
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Rhabdoid tumor predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- AlphaMissense 0.63
- MetaLR 0.51
- MetaSVM -0.08
- PolyPhen-2 0.18
- SIFT 0.01
- MutPred 0.18
- 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)