Q57H (p.Gln57His) variant of KCNJ2 (P63252)
Q57H (p.Gln57His) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Q57H (p.Gln57His) variant details
- p.Gln57His
- rs2074385303
- gnomAD rs2074385303
- ClinGen CA400860027
- ClinVar RCV002399049
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.34
- MetaLR 0.62
- MetaSVM -0.06
- CADD 20.50
- SIFT 0.68
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available