T13S (p.Thr13Ser) variant of SUFU (Suppressor of fused homolog)
T13S (p.Thr13Ser) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T13S (p.Thr13Ser) variant details
- p.Thr13Ser
- rs1456048322
- ClinGen CA377886204
- ClinVar RCV002363950
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.09
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.5e-06)
- 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)