E58D (p.Glu58Asp) variant of SLC2A4 (P14672)
E58D (p.Glu58Asp) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
E58D (p.Glu58Asp) variant details
- p.Glu58Asp
- gnomAD rs1462070095
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.13
- CADD 8.19
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the East Asian population (allele frequency 0.0016)
- Structural context available