C69Y (p.Cys69Tyr) variant of SLC12A1 (Q13621)
C69Y (p.Cys69Tyr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
C69Y (p.Cys69Tyr) variant details
- p.Cys69Tyr
- rs143141941
- ClinGen CA392331410
- ClinVar RCV000713321
- ClinVar RCV000765215
- Uncertain significance
- Bartter disease type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.23
- MetaLR 0.45
- MetaSVM -0.24
- CADD 18.10
- PolyPhen-2 0.05
- SIFT 0.28
- ClinVar: Uncertain significance (Bartter disease type 1; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available