A508T (p.Ala508Thr) variant of SLC12A1 (Q13621)
A508T (p.Ala508Thr) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Bartter disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
A508T (p.Ala508Thr) variant details
- p.Ala508Thr
- rs765347751
- ClinGen CA351328
- cosmic curated COSV66794
- ClinVar RCV000779167
- Pathogenic/Likely pathogenic
- not provided; Bartter disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.96
- MetaLR 0.98
- MetaSVM 1.07
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Bartter disease type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available