G14A (p.Gly14Ala) variant of SLC5A2 (Sodium/glucose cotransporter 2)
G14A (p.Gly14Ala) in SLC5A2 (Sodium/glucose cotransporter 2) 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 and structural context.
G14A (p.Gly14Ala) variant details
- p.Gly14Ala
- ExAC rs752166710
- gnomAD rs752166710
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.17
- CADD 3.64
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available