E55Q (p.Glu55Gln) variant of KCNJ5 (P48544)
E55Q (p.Glu55Gln) in KCNJ5 (P48544) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E55Q (p.Glu55Gln) variant details
- p.Glu55Gln
- TOPMed rs72544301
- gnomAD rs72544301
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.34
- MetaLR 0.66
- MetaSVM 0.10
- CADD 21.90
- SIFT 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available