T13A (p.Thr13Ala) variant of SUFU (Suppressor of fused homolog)
T13A (p.Thr13Ala) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
T13A (p.Thr13Ala) variant details
- p.Thr13Ala
- rs1456048322
- ClinGen CA377886200
- ClinVar RCV003177382
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- AlphaMissense 0.05
- MetaLR 0.06
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.23
- MutPred 0.16
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)