V103I (p.Val103Ile) variant of KCNQ2 (O43526)
V103I (p.Val103Ile) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
V103I (p.Val103Ile) variant details
- p.Val103Ile
- rs1555874588
- ClinGen CA409656562
- ClinVar RCV000518985
- ClinVar RCV006463253
- Uncertain significance
- not provided; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.56
- MetaLR 0.75
- MetaSVM 0.65
- PolyPhen-2 0.29
- SIFT 0.00
- EVE 0.49
- ClinVar: Uncertain significance (not provided; Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available