I876V (p.Ile876Val) variant of CDKL5 (Cyclin-dependent kinase-like 5)
I876V (p.Ile876Val) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
I876V (p.Ile876Val) variant details
- p.Ile876Val
- rs2518898936
- ClinGen CA412367564
- ClinVar RCV003328509
- Likely pathogenic
- Autism
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- MetaLR 0.26
- MetaSVM -0.70
- CADD 22.90
- PolyPhen-2 0.79
- SIFT 0.50
- ClinVar: Likely pathogenic (Autism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 7.4e-05)
- Structural context available
- Cited in: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental… (PMID 20466091)
- Cited in: Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a… (PMID 34131312)