I8L (p.Ile8Leu) variant of SLC2A4 (P14672)
I8L (p.Ile8Leu) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
I8L (p.Ile8Leu) variant details
- p.Ile8Leu
- gnomAD rs1293103801
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.34
- MetaLR 0.26
- MetaSVM -0.92
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available