G54D (p.Gly54Asp) variant of SLC5A2 (Sodium/glucose cotransporter 2)
G54D (p.Gly54Asp) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G54D (p.Gly54Asp) variant details
- p.Gly54Asp
- ExAC rs778833159
- gnomAD rs778833159
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.83
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.12
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available