I115L (p.Ile115Leu) variant of KCNQ2 (O43526)
I115L (p.Ile115Leu) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
I115L (p.Ile115Leu) variant details
- p.Ile115Leu
- rs752331818
- ClinGen CA9958853
- ClinVar RCV003315386
- ClinVar RCV004593260
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.77
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available