G3E (p.Gly3Glu) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
G3E (p.Gly3Glu) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
G3E (p.Gly3Glu) variant details
- p.Gly3Glu
- rs1333669177
- ClinGen CA359018823
- ClinVar RCV003118787
- TOPMed rs1333669177
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0922
- REVEL 0.04
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00053)
- Structural context available