K552R (p.Lys552Arg) variant of KCNQ2 (O43526)
K552R (p.Lys552Arg) 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 0.79 / 1. The record also includes population frequency data and structural context.
K552R (p.Lys552Arg) variant details
- p.Lys552Arg
- rs1555853613
- ClinGen CA409643992
- ClinVar RCV006464282
- Ensembl rs1555853613
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.83
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- CADD 25.10
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available