L34Q (p.Leu34Gln) variant of SLC5A2 (Sodium/glucose cotransporter 2)
L34Q (p.Leu34Gln) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L34Q (p.Leu34Gln) variant details
- p.Leu34Gln
- ExAC rs749287673
- gnomAD rs749287673
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.63
- CADD 24.70
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available