V27A (p.Val27Ala) variant of CDKL5 (Cyclin-dependent kinase-like 5)
V27A (p.Val27Ala) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CDKL5 disorder; not provided; Developmental and epileptic encephalopathy, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V27A (p.Val27Ala) variant details
- p.Val27Ala
- rs2518781128
- ClinGen CA412489831
- ClinVar RCV002466381
- ClinVar RCV003326633
- Pathogenic/Likely pathogenic
- CDKL5 disorder; not provided; Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- MetaLR 0.58
- MetaSVM 0.32
- CADD 26.10
- PolyPhen-2 0.79
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (CDKL5 disorder; not provided; Developmental and epileptic enceph)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)