A17G (p.Ala17Gly) variant of SUFU (Suppressor of fused homolog)
A17G (p.Ala17Gly) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- rs12780580
- ClinGen CA377886260
- ClinVar RCV004522054
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.11
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.36
- 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 1.8e-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)