A31E (p.Ala31Glu) variant of SLC2A4 (P14672)
A31E (p.Ala31Glu) 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, published literature, and structural context.
A31E (p.Ala31Glu) variant details
- p.Ala31Glu
- gnomAD 17-7283303-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.87
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available