I53T (p.Ile53Thr) variant of KCNQ2 (O43526)
I53T (p.Ile53Thr) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
I53T (p.Ile53Thr) variant details
- p.Ile53Thr
- rs1038663676
- ClinGen CA317423862
- ClinVar RCV006606847
- TOPMed rs1038663676
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.37
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.09
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available