R382Q (p.Arg382Gln) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
R382Q (p.Arg382Gln) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital secretory sodium diarrhea 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R382Q (p.Arg382Gln) variant details
- p.Arg382Gln
- rs766076524
- ClinGen CA358655
- ClinVar RCV000210215
- UniProt VAR 076422
- Pathogenic
- Congenital secretory sodium diarrhea 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.55
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital secretory sodium diarrhea 8)
- EBI: Pathogenic (in DIAR8)
- UniProt: Pathogenic (in DIAR8)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea. (PMID 26358773)
- Cited in: Congenital Sodium Diarrhea by mutation of the SLC9A3 gene. (PMID 31276831)