Y11H (p.Tyr11His) variant of KCNQ2 (O43526)
Y11H (p.Tyr11His) 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 0.47 / 1. The record also includes population frequency data and structural context.
Y11H (p.Tyr11His) variant details
- p.Tyr11His
- rs1270851643
- ClinGen CA409636222
- ClinVar RCV006606513
- TOPMed rs1270851643
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.40
- CADD 23.60
- PolyPhen-2 0.52
- SIFT 0.19
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available