T11A (p.Thr11Ala) variant of SMARCA4 (P51532)
T11A (p.Thr11Ala) in SMARCA4 (P51532) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
T11A (p.Thr11Ala) variant details
- p.Thr11Ala
- rs1060502067
- ClinGen CA16615864
- ClinVar RCV000475362
- ClinVar RCV001019147
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- AlphaMissense 0.13
- MetaLR 0.68
- MetaSVM 0.46
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)