E31K (p.Glu31Lys) variant of SLC12A1 (Q13621)
E31K (p.Glu31Lys) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bartter disease type 1; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- ESP rs375884289
- TOPMed rs375884289
- gnomAD rs375884289
- Uncertain significance
- Bartter disease type 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.19
- MetaLR 0.06
- MetaSVM -1.01
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Bartter disease type 1; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available