H18R (p.His18Arg) variant of KCNA2 (P16389)
H18R (p.His18Arg) 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 0.37 / 1. The record also includes population frequency data and structural context.
H18R (p.His18Arg) variant details
- p.His18Arg
- rs754808361
- ClinGen CA1000759
- ClinVar RCV003590923
- ExAC rs754808361
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.29
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available