G33A (p.Gly33Ala) variant of SUFU (Suppressor of fused homolog)
G33A (p.Gly33Ala) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G33A (p.Gly33Ala) variant details
- p.Gly33Ala
- rs1391787041
- ClinGen CA377886458
- ClinVar RCV001019877
- ClinVar RCV001370651
- Uncertain significance
- Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.95
- CADD 29.90
- ClinVar: Uncertain significance (Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)