R80Q (p.Arg80Gln) variant of KCNA2 (P16389)
R80Q (p.Arg80Gln) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 32; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
R80Q (p.Arg80Gln) variant details
- p.Arg80Gln
- rs1649513909
- ClinGen CA341606271
- NCI-TCGA Cosmic COSV6037
- ClinVar RCV001057465
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 32; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.85
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 32; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available