G60D (p.Gly60Asp) variant of KCNQ2 (O43526)
G60D (p.Gly60Asp) 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 0.61 / 1. The record also includes structural context.
G60D (p.Gly60Asp) variant details
- p.Gly60Asp
- rs2082236203
- ClinGen CA409635298
- ClinVar RCV006563449
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- AlphaMissense 0.07
- MetaLR 0.92
- MetaSVM 0.89
- PolyPhen-2 0.72
- SIFT 1.00
- EVE 0.16
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available