L83I (p.Leu83Ile) variant of SLC2A4 (P14672)
L83I (p.Leu83Ile) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L83I (p.Leu83Ile) variant details
- p.Leu83Ile
- gnomAD rs1343122146
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.30
- CADD 17.10
- PolyPhen-2 0.16
- SIFT 0.17
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available