I131T (p.Ile131Thr) variant of KCNQ2 (O43526)
I131T (p.Ile131Thr) 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 0.47 / 1. The record also includes structural context.
I131T (p.Ile131Thr) variant details
- p.Ile131Thr
- rs2145779784
- ClinGen CA409655637
- ClinVar RCV006468320
- Ensembl rs2145779784
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- AlphaMissense 0.64
- MetaLR 0.43
- MetaSVM -0.18
- PolyPhen-2 0.95
- SIFT 0.67
- EVE 0.27
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available