K53E (p.Lys53Glu) variant of KCNJ10 (P78508)
K53E (p.Lys53Glu) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
K53E (p.Lys53Glu) variant details
- p.Lys53Glu
- rs2101925129
- ClinGen CA343229870
- ClinVar RCV001951735
- Ensembl rs2101925129
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- AlphaMissense 0.70
- MetaLR 0.66
- MetaSVM 0.34
- PolyPhen-2 0.24
- SIFT 0.28
- EVE 0.27
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available