G18R (p.Gly18Arg) variant of SLC12A3 (P55017)
G18R (p.Gly18Arg) in SLC12A3 (P55017) 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 0.77 / 1. The record also includes population frequency data and structural context.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- ExAC rs760238799
- TOPMed rs760238799
- gnomAD rs760238799
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available