G29V (p.Gly29Val) variant of SMARCA4 (P51532)
G29V (p.Gly29Val) 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 0.72 / 1. The record also includes published literature and structural context.
G29V (p.Gly29Val) variant details
- p.Gly29Val
- rs2145722799
- ClinGen CA404054124
- ClinVar RCV002449719
- ClinVar RCV003100004
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Rhabdoid tumor predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- AlphaMissense 0.44
- MetaLR 0.80
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.06
- MutPred 0.20
- 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)