L15V (p.Leu15Val) variant of KCNA2 (P16389)
L15V (p.Leu15Val) 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 0.47 / 1. The record also includes structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- rs1649522982
- ClinGen CA341607327
- ClinVar RCV001320298
- Ensembl rs1649522982
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- AlphaMissense 0.07
- MetaLR 0.59
- MetaSVM -0.07
- PolyPhen-2 0.00
- SIFT 0.17
- MutPred 0.29
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available