L57P (p.Leu57Pro) variant of SLC5A2 (Sodium/glucose cotransporter 2)
L57P (p.Leu57Pro) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- TOPMed rs1477114969
- gnomAD rs1477114969
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.96
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available