R439Q (p.Arg439Gln) variant of SLC12A1 (Q13621)
R439Q (p.Arg439Gln) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Bartter disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
R439Q (p.Arg439Gln) variant details
- p.Arg439Gln
- rs780619649
- ClinGen CA7547060
- cosmic curated COSV66795
- ClinVar RCV001843848
- Pathogenic/Likely pathogenic
- not provided; Bartter disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Bartter disease type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available