L560P (p.Leu560Pro) variant of SLC12A1 (Q13621)
L560P (p.Leu560Pro) 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 0.87 / 1. The record also includes population frequency data and structural context.
L560P (p.Leu560Pro) variant details
- p.Leu560Pro
- rs1370120380
- ClinGen CA392312677
- ClinVar RCV001775425
- gnomAD rs1370120380
- Likely pathogenic
- Bartter disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 1.03
- CADD 28.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Bartter disease type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available