A40V (p.Ala40Val) variant of CDKL5 (Cyclin-dependent kinase-like 5)
A40V (p.Ala40Val) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CDKL5 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- rs122460159
- ClinGen CA121521
- NCI-TCGA Cosmic COSV6611
- cosmic curated COSV66113
- Pathogenic
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- MetaLR 0.56
- MetaSVM 0.36
- CADD 25.70
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Pathogenic (CDKL5 disorder)
- EBI: Pathogenic (in DEE2)
- UniProt: Pathogenic (in DEE2)
- Population evidence available
- Structural context available
- Cited in: Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. (PMID 17993579)
- Cited in: Key clinical features to identify girls with CDKL5 mutations. (PMID 18790821)