I42V (p.Ile42Val) variant of SLC2A4 (P14672)
I42V (p.Ile42Val) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- 1000Genomes rs541196033
- ExAC rs541196033
- gnomAD rs541196033
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.23
- CADD 22.80
- PolyPhen-2 0.54
- SIFT 0.31
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available