G980R (p.Gly980Arg) variant of SLC12A3 (P55017)
G980R (p.Gly980Arg) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Renal tubulopathies; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G980R (p.Gly980Arg) variant details
- p.Gly980Arg
- rs34803727
- ClinGen CA8070170
- ClinVar RCV000713331
- ClinVar RCV000762975
- Pathogenic/Likely pathogenic
- Renal tubulopathies; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- AlphaMissense 0.75
- MetaLR 0.37
- MetaSVM -0.23
- CADD 28.50
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Renal tubulopathies; Inborn genetic diseases; not provided)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available
- Cited in: Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. (PMID 22009145)
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)