I8A (p.Ile8Ala) variant of SLC2A4 (P14672)
I8A (p.Ile8Ala) in SLC2A4 (P14672) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
I8A (p.Ile8Ala) variant details
- p.Ile8Ala
- rs1597598553
- gnomAD 17-7281953-CAGAT-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.819
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available