A59E (p.Ala59Glu) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
A59E (p.Ala59Glu) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Congenital secretory sodium diarrhea 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A59E (p.Ala59Glu) variant details
- p.Ala59Glu
- Ensembl rs866782877
- Uncertain significance
- Congenital secretory sodium diarrhea 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.38
- CADD 25.10
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital secretory sodium diarrhea 8)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available