G9S (p.Gly9Ser) variant of KCNQ2 (O43526)
G9S (p.Gly9Ser) 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 0.62 / 1. The record also includes population frequency data and structural context.
G9S (p.Gly9Ser) variant details
- p.Gly9Ser
- rs2516747328
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10061
- ClinGen CA409636250
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.55
- CADD 25.40
- PolyPhen-2 0.75
- SIFT 0.01
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available