G54R (p.Gly54Arg) variant of SLC5A2 (Sodium/glucose cotransporter 2)
G54R (p.Gly54Arg) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- ESP rs373741171
- ExAC rs373741171
- TOPMed rs373741171
- gnomAD rs373741171
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.92
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available