D193V (p.Asp193Val) variant of CDKL5 (Cyclin-dependent kinase-like 5)
D193V (p.Asp193Val) 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 CDKL5 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
D193V (p.Asp193Val) variant details
- p.Asp193Val
- rs267608500
- ClinGen CA412353107
- ClinVar RCV003112433
- ClinVar RCV005054000
- Likely pathogenic
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (CDKL5 disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)