G51E (p.Gly51Glu) variant of SLC12A1 (Q13621)
G51E (p.Gly51Glu) in SLC12A1 (Q13621) 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 0.42 / 1. The record also includes population frequency data and structural context.
G51E (p.Gly51Glu) variant details
- p.Gly51Glu
- TOPMed rs1291382750
- gnomAD rs1291382750
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.29
- MetaLR 0.07
- MetaSVM -0.99
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available