R73Q (p.Arg73Gln) variant of KCNA2 (P16389)
R73Q (p.Arg73Gln) 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 0.73 / 1. The record also includes population frequency data and structural context.
R73Q (p.Arg73Gln) variant details
- p.Arg73Gln
- rs373042266
- ClinGen CA1000745
- cosmic curated COSV60368
- ClinVar RCV000705035
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.68
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available