D79Y (p.Asp79Tyr) variant of KCNA2 (P16389)
D79Y (p.Asp79Tyr) 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 0.93 / 1. The record also includes structural context.
D79Y (p.Asp79Tyr) variant details
- p.Asp79Tyr
- rs747844549
- ClinGen CA341606284
- ClinVar RCV001339653
- ClinVar RCV001762563
- Uncertain significance
- Developmental and epileptic encephalopathy, 32; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available