I8K (p.Ile8Lys) variant of SLC2A4 (P14672)
I8K (p.Ile8Lys) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I8K (p.Ile8Lys) variant details
- p.Ile8Lys
- gnomAD 17-7281957-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.38
- MetaLR 0.27
- MetaSVM -0.91
- CADD 24.70
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available