Q17L (p.Gln17Leu) variant of SLC2A4 (P14672)
Q17L (p.Gln17Leu) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q17L (p.Gln17Leu) variant details
- p.Gln17Leu
- gnomAD 17-7283261-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.16
- MetaLR 0.25
- MetaSVM -0.90
- CADD 8.46
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available