A2E (p.Ala2Glu) variant of SUFU (Suppressor of fused homolog)
A2E (p.Ala2Glu) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD rs1589969719
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.09
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available