N103T (p.Asn103Thr) variant of KCNA2 (P16389)
N103T (p.Asn103Thr) 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 0.38 / 1. The record also includes structural context.
N103T (p.Asn103Thr) variant details
- p.Asn103Thr
- rs1361080553
- ClinGen CA341605966
- ClinVar RCV002805926
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- AlphaMissense 0.11
- MetaLR 0.29
- MetaSVM -0.39
- PolyPhen-2 0.39
- SIFT 0.02
- EVE 0.22
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available