E3D (p.Glu3Asp) variant of SUFU (Suppressor of fused homolog)
E3D (p.Glu3Asp) 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; Familial meningioma; Basal cell nevus s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- 1000Genomes rs561651427
- ExAC rs561651427
- TOPMed rs561651427
- gnomAD rs561651427
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma; Basal cell nevus s
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.10
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma; Ba)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available