V108M (p.Val108Met) variant of KCNQ2 (O43526)
V108M (p.Val108Met) 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 0.68 / 1. The record also includes population frequency data and structural context.
V108M (p.Val108Met) variant details
- p.Val108Met
- rs749164961
- ClinGen CA9958856
- ClinVar RCV000424454
- ClinVar RCV006608017
- Uncertain significance
- not provided; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.65
- CADD 23.60
- PolyPhen-2 0.40
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available