A555T (p.Ala555Thr) variant of SLC12A1 (Q13621)
A555T (p.Ala555Thr) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bartter syndrome; Bartter disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
A555T (p.Ala555Thr) variant details
- p.Ala555Thr
- rs2505087791
- ClinVar RCV004586296
- ClinVar RCV005006450
- Likely pathogenic
- Bartter syndrome; Bartter disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.87
- MetaLR 0.96
- MetaSVM 1.10
- CADD 25.50
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Likely pathogenic (Bartter syndrome; Bartter disease type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available