E60E (p.Glu60Glu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E60E (p.Glu60Glu) in CDKL5 (Cyclin-dependent kinase-like 5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E60E (p.Glu60Glu) variant details
- p.Glu60Glu
- rs148697943
- gnomAD X-18575388-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 10.40
- SIFT 0.00
- Most common in the HGDP:UYGUR population (allele frequency 0.12)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR… (PMID 23757202)