G12E (p.Gly12Glu) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
G12E (p.Gly12Glu) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- 1000Genomes rs191409336
- TOPMed rs191409336
- gnomAD rs191409336
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.03
- CADD 7.50
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available