A47D (p.Ala47Asp) variant of SLC2A4 (P14672)
A47D (p.Ala47Asp) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
A47D (p.Ala47Asp) variant details
- p.Ala47Asp
- TOPMed rs1007734551
- gnomAD rs1007734551
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.86
- CADD 26.90
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available