R19H (p.Arg19His) variant of SLC12A3 (P55017)
R19H (p.Arg19His) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R19H (p.Arg19His) variant details
- p.Arg19His
- rs776593495
- ClinGen CA8068903
- ClinVar RCV001663812
- ClinVar RCV001832848
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)