E3E (p.Glu3Glu) variant of SUFU (Suppressor of fused homolog)
E3E (p.Glu3Glu) in SUFU (Suppressor of fused homolog) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E3E (p.Glu3Glu) variant details
- p.Glu3Glu
- rs561651427
- gnomAD 10-102504161-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 13.40
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Literature evidence available