G612R (p.Gly612Arg) variant of SLC12A1 (Q13621)
G612R (p.Gly612Arg) 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 0.95 / 1. The record also includes structural context.
G612R (p.Gly612Arg) variant details
- p.Gly612Arg
- rs2041650191
- ClinGen CA392313492
- ClinVar RCV001329192
- Ensembl rs2041650191
- Likely pathogenic
- Bartter disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Bartter disease type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available