R100Q (p.Arg100Gln) variant of KCNA2 (P16389)
R100Q (p.Arg100Gln) 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 0.76 / 1. The record also includes population frequency data and structural context.
R100Q (p.Arg100Gln) variant details
- p.Arg100Gln
- rs1649509246
- ClinGen CA341605995
- NCI-TCGA Cosmic COSV6036
- cosmic curated COSV60369
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.73
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available