C69R (p.Cys69Arg) variant of SLC12A1 (Q13621)
C69R (p.Cys69Arg) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bartter disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
C69R (p.Cys69Arg) variant details
- p.Cys69Arg
- ExAC rs201119328
- TOPMed rs201119328
- gnomAD rs201119328
- Uncertain significance
- Bartter disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.21
- MetaLR 0.36
- MetaSVM -0.80
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Uncertain significance (Bartter disease type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available