G11V (p.Gly11Val) variant of SUFU (Suppressor of fused homolog)
G11V (p.Gly11Val) 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 0.40 / 1. The record also includes published literature and structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- rs1227379293
- ClinGen CA377886160
- ClinVar RCV003360698
- gnomAD rs1227379293
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- AlphaMissense 0.07
- MetaLR 0.27
- MetaSVM -0.74
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.14
- 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)