V39G (p.Val39Gly) variant of CDKL5 (Cyclin-dependent kinase-like 5)
V39G (p.Val39Gly) 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 Developmental and epileptic encephalopathy, 2; Angelman syndrome-like. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
V39G (p.Val39Gly) variant details
- p.Val39Gly
- rs1924899673
- ClinGen CA412346694
- ClinVar RCV001063549
- Ensembl rs1924899673
- Likely pathogenic
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- MetaLR 0.64
- MetaSVM 0.49
- CADD 27.00
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)