K56E (p.Lys56Glu) variant of KCNJ5 (P48544)
K56E (p.Lys56Glu) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
K56E (p.Lys56Glu) variant details
- p.Lys56Glu
- TOPMed rs1425428292
- gnomAD rs1425428292
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.96
- MetaLR 0.96
- MetaSVM 1.10
- CADD 27.40
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available