D7V (p.Asp7Val) variant of KCNA2 (P16389)
D7V (p.Asp7Val) 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 0.66 / 1. The record also includes population frequency data and structural context.
D7V (p.Asp7Val) variant details
- p.Asp7Val
- rs746657035
- ClinVar RCV004585176
- ExAC rs746657035
- gnomAD rs746657035
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.68
- CADD 25.60
- PolyPhen-2 0.78
- SIFT 0.01
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available