P18A (p.Pro18Ala) variant of SUFU (Suppressor of fused homolog)
P18A (p.Pro18Ala) 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 published literature and structural context.
P18A (p.Pro18Ala) variant details
- p.Pro18Ala
- rs1589969896
- ClinGen CA377886267
- ClinVar RCV003177390
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.06
- MetaLR 0.08
- MetaSVM -1.06
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.17
- 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)