P23L (p.Pro23Leu) variant of SLC5A2 (Sodium/glucose cotransporter 2)
P23L (p.Pro23Leu) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- ExAC rs748207966
- TOPMed rs748207966
- gnomAD rs748207966
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.25
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available