T40A (p.Thr40Ala) variant of SLC12A1 (Q13621)
T40A (p.Thr40Ala) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Bartter disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
T40A (p.Thr40Ala) variant details
- p.Thr40Ala
- rs772144467
- ClinGen CA7546692
- ClinVar RCV001885667
- ClinVar RCV002490090
- Uncertain significance
- not provided; Bartter disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.23
- MetaLR 0.31
- MetaSVM -0.72
- CADD 0.16
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Bartter disease type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available