I38S (p.Ile38Ser) variant of CDKL5 (Cyclin-dependent kinase-like 5)
I38S (p.Ile38Ser) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
I38S (p.Ile38Ser) variant details
- p.Ile38Ser
- rs1555947847
- ClinGen CA412346687
- ClinVar RCV000497323
- Ensembl rs1555947847
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- AlphaMissense 0.82
- MetaLR 0.23
- MetaSVM -0.60
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.54
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available