E281D (p.Glu281Asp) variant of SLC12A1 (Q13621)
E281D (p.Glu281Asp) 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 0.59 / 1. The record also includes population frequency data and structural context.
E281D (p.Glu281Asp) variant details
- p.Glu281Asp
- rs886039870
- ClinGen CA10588934
- ClinVar RCV000256371
- Ensembl rs886039870
- Likely pathogenic
- Bartter disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.72
- CADD 23.90
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Likely pathogenic (Bartter disease type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available