E57K (p.Glu57Lys) variant of SLC22A1 (O15245)
E57K (p.Glu57Lys) in SLC22A1 (O15245) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- TOPMed rs1305316089
- gnomAD rs1305316089
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.42
- CADD 23.60
- PolyPhen-2 0.31
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available