T57I (p.Thr57Ile) variant of KCNA2 (P16389)
T57I (p.Thr57Ile) 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 0.89 / 1. The record also includes structural context.
T57I (p.Thr57Ile) variant details
- p.Thr57Ile
- rs1649517174
- ClinGen CA341606535
- ClinVar RCV001236369
- Ensembl rs1649517174
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available