T9S (p.Thr9Ser) variant of SMARCB1 (Q12824)
T9S (p.Thr9Ser) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rhabdoid tumor predisposition syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T9S (p.Thr9Ser) variant details
- p.Thr9Ser
- rs2517652557
- ClinVar RCV004573664
- Uncertain significance
- Rhabdoid tumor predisposition syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 25.10
- PolyPhen-2 0.31
- SIFT 0.10
- ClinVar: Uncertain significance (Rhabdoid tumor predisposition syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.315
- 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)