K116R (p.Lys116Arg) variant of KCNQ2 (O43526)
K116R (p.Lys116Arg) 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 0.33 / 1. The record also includes population frequency data and structural context.
K116R (p.Lys116Arg) variant details
- p.Lys116Arg
- rs1439320142
- ClinGen CA409656435
- ClinVar RCV006471802
- gnomAD rs1439320142
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.22
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available