T35A (p.Thr35Ala) variant of CDKL5 (Cyclin-dependent kinase-like 5)
T35A (p.Thr35Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
T35A (p.Thr35Ala) variant details
- p.Thr35Ala
- rs1924898828
- ClinGen CA412346662
- ClinVar RCV003337912
- Uncertain significance
- Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- AlphaMissense 0.95
- MetaLR 0.28
- MetaSVM -0.48
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)