R80W (p.Arg80Trp) variant of KCNA2 (P16389)
R80W (p.Arg80Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R80W (p.Arg80Trp) variant details
- p.Arg80Trp
- rs1448937059
- ClinGen CA341606273
- cosmic curated COSV60371
- ClinVar RCV000704983
- Uncertain significance
- Developmental and epileptic encephalopathy, 32; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.83
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available