L106S (p.Leu106Ser) variant of KCNA2 (P16389)
L106S (p.Leu106Ser) 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 0.46 / 1. The record also includes structural context.
L106S (p.Leu106Ser) variant details
- p.Leu106Ser
- rs2101402741
- ClinGen CA341605932
- cosmic curated COSV10031
- ClinVar RCV001957949
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.86
- MetaLR 0.46
- MetaSVM -0.02
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.25
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available