V9A (p.Val9Ala) variant of CDKL5 (Cyclin-dependent kinase-like 5)
V9A (p.Val9Ala) 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 Developmental and epileptic encephalopathy, 2; Angelman syndrome-like. 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.
V9A (p.Val9Ala) variant details
- p.Val9Ala
- rs1569197962
- ClinGen CA412489533
- ClinVar RCV000688793
- Ensembl rs1569197962
- Uncertain significance
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- MetaLR 0.21
- MetaSVM -0.69
- CADD 25.60
- PolyPhen-2 0.26
- SIFT 0.02
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)