I134V (p.Ile134Val) variant of KCNQ2 (O43526)
I134V (p.Ile134Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
I134V (p.Ile134Val) variant details
- p.Ile134Val
- rs2081381281
- ClinGen CA409655592
- ClinVar RCV002281181
- ClinVar RCV006466349
- Uncertain significance
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- AlphaMissense 0.29
- MetaLR 0.89
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.27
- EVE 0.26
- ClinVar: Uncertain significance (Early-infantile DEE; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available