A311V (p.Ala311Val) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
A311V (p.Ala311Val) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A311V (p.Ala311Val) variant details
- p.Ala311Val
- rs869312806
- ClinGen CA358657
- ClinVar RCV000210219
- UniProt VAR 076421
- Pathogenic
- Congenital secretory sodium diarrhea 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.32
- 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 Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea. (PMID 26358773)
- Cited in: Congenital Na+ diarrhea: a new type of secretory diarrhea. (PMID 3880821)