C475Y (p.Cys475Tyr) variant of SLC12A1 (Q13621)
C475Y (p.Cys475Tyr) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bartter disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
C475Y (p.Cys475Tyr) variant details
- p.Cys475Tyr
- rs1555466999
- ClinGen CA392310776
- ClinVar RCV000662325
- ClinVar RCV005004319
- Likely pathogenic
- Bartter disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.64
- ClinVar: Likely pathogenic (Bartter disease type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available