D79H (p.Asp79His) variant of KCNA2 (P16389)
D79H (p.Asp79His) 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 0.90 / 1. The record also includes population frequency data and structural context.
D79H (p.Asp79His) variant details
- p.Asp79His
- rs747844549
- ClinGen CA1000744
- ClinVar RCV003754161
- ExAC rs747844549
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.94
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 1.03
- CADD 26.10
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available