R43W (p.Arg43Trp) variant of KCNA2 (P16389)
R43W (p.Arg43Trp) 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 0.74 / 1. The record also includes population frequency data and structural context.
R43W (p.Arg43Trp) variant details
- p.Arg43Trp
- rs2101404053
- ClinGen CA341606796
- cosmic curated COSV10885
- ClinVar RCV001758334
- Uncertain significance
- Developmental and epileptic encephalopathy, 32; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.85
- CADD 29.30
- 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 REMAINING population (allele frequency 1.7e-05)
- Structural context available