D79N (p.Asp79Asn) variant of KCNA2 (P16389)
D79N (p.Asp79Asn) 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 0.84 / 1. The record also includes population frequency data and structural context.
D79N (p.Asp79Asn) variant details
- p.Asp79Asn
- rs747844549
- ClinGen CA341606287
- cosmic curated COSV60369
- ClinVar RCV001223588
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.81
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 1.03
- CADD 27.30
- PolyPhen-2 1.00
- 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 6e-05)
- Structural context available