I42T (p.Ile42Thr) variant of SLC2A4 (P14672)
I42T (p.Ile42Thr) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I42T (p.Ile42Thr) variant details
- p.Ile42Thr
- ExAC rs533993099
- TOPMed rs533993099
- gnomAD rs533993099
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.37
- CADD 19.10
- PolyPhen-2 0.04
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available