G8C (p.Gly8Cys) variant of SUFU (Suppressor of fused homolog)
G8C (p.Gly8Cys) 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; Medulloblastoma; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
G8C (p.Gly8Cys) variant details
- p.Gly8Cys
- rs769696737
- ClinGen CA377886123
- ClinVar RCV000688921
- ClinVar RCV005492862
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Medulloblastoma; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.10
- MetaLR 0.15
- MetaSVM -0.89
- PolyPhen-2 0.01
- SIFT 0.52
- MutPred 0.16
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Medulloblastoma; Gorlin)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Nevoid Basal Cell Carcinoma Syndrome. (PMID 20301330)