G8S (p.Gly8Ser) variant of KCNQ2 (O43526)
G8S (p.Gly8Ser) 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 0.58 / 1. The record also includes population frequency data and structural context.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- rs769045070
- ClinGen CA9958904
- cosmic curated COSV60433
- ClinVar RCV003233994
- Uncertain significance
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.48
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (Early-infantile DEE; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available