T3A (p.Thr3Ala) variant of SMARCA4 (P51532)
T3A (p.Thr3Ala) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rhabdoid tumor predisposition syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
T3A (p.Thr3Ala) variant details
- p.Thr3Ala
- rs1599927930
- ClinGen CA404053848
- ClinVar RCV003040930
- Uncertain significance
- Rhabdoid tumor predisposition syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- AlphaMissense 0.26
- MetaLR 0.53
- MetaSVM -0.06
- PolyPhen-2 0.24
- SIFT 0.02
- MutPred 0.18
- ClinVar: Uncertain significance (Rhabdoid tumor predisposition syndrome 2)
- 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)