R31R (p.Arg31Arg) variant of CDKL5 (Cyclin-dependent kinase-like 5)
R31R (p.Arg31Arg) in CDKL5 (Cyclin-dependent kinase-like 5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R31R (p.Arg31Arg) variant details
- p.Arg31Arg
- rs140332992
- gnomAD X-18510848-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 13.30
- Most common in the HGDP:DRUZE population (allele frequency 0.017)
- 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)