F26I (p.Phe26Ile) variant of SUFU (Suppressor of fused homolog)
F26I (p.Phe26Ile) 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 0.30 / 1. The record also includes published literature and structural context.
F26I (p.Phe26Ile) variant details
- p.Phe26Ile
- rs1589970016
- ClinGen CA377886361
- ClinVar RCV002400594
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- AlphaMissense 0.63
- MetaLR 0.17
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 0.50
- EVE 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)