K45E (p.Lys45Glu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
K45E (p.Lys45Glu) 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 0.50 / 1. The record also includes population frequency data and structural context.
K45E (p.Lys45Glu) variant details
- p.Lys45Glu
- rs2147132256
- ClinGen CA412346731
- ClinVar RCV001786250
- Ensembl rs2147132256
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- MetaLR 0.35
- MetaSVM -0.16
- CADD 25.30
- PolyPhen-2 0.39
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-06)
- Structural context available