L85Q (p.Leu85Gln) variant of KCNQ2 (O43526)
L85Q (p.Leu85Gln) 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 0.92 / 1. The record also includes structural context.
L85Q (p.Leu85Gln) variant details
- p.Leu85Gln
- rs2082233689
- ClinGen CA409635061
- ClinVar RCV006561953
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available