G19D (p.Gly19Asp) variant of SUFU (Suppressor of fused homolog)
G19D (p.Gly19Asp) 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 Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
G19D (p.Gly19Asp) variant details
- p.Gly19Asp
- rs1589969913
- ClinGen CA377886281
- ClinVar RCV001024427
- ClinVar RCV001069906
- Uncertain significance
- Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- AlphaMissense 0.23
- MetaLR 0.13
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.11
- ClinVar: Uncertain significance (Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing)
- 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)