D153V (p.Asp153Val) variant of CDKL5 (Cyclin-dependent kinase-like 5)
D153V (p.Asp153Val) 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 not provided; CDKL5 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
D153V (p.Asp153Val) variant details
- p.Asp153Val
- rs786204985
- ClinGen CA412351081
- ClinVar RCV001764874
- ClinVar RCV004728793
- Uncertain significance
- not provided; CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 0.81
- PolyPhen-2 0.13
- SIFT 0.03
- EVE 0.82
- ClinVar: Uncertain significance (not provided; CDKL5 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available