E60K (p.Glu60Lys) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E60K (p.Glu60Lys) in CDKL5 (Cyclin-dependent kinase-like 5) 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 0.88 / 1. The record also includes structural context.
E60K (p.Glu60Lys) variant details
- p.Glu60Lys
- rs1925262394
- ClinGen CA412348586
- ClinVar RCV001752799
- Ensembl rs1925262394
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available