Q47H (p.Gln47His) variant of KCNA2 (P16389)
Q47H (p.Gln47His) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 32. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Q47H (p.Gln47His) variant details
- p.Gln47His
- rs1313231897
- ClinGen CA341606685
- ClinVar RCV002615769
- TOPMed rs1313231897
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.53
- CADD 22.60
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available