M63I (p.Met63Ile) variant of CDKL5 (Cyclin-dependent kinase-like 5)
M63I (p.Met63Ile) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Angelman syndrome-like; Developmental and epileptic encephalopathy, 2. The record also includes variant effect predictions and structural context.
M63I (p.Met63Ile) variant details
- p.Met63Ile
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10118
- Uncertain significance
- Angelman syndrome-like; Developmental and epileptic encephalopathy, 2
- Missense
- MetaLR 0.08
- MetaSVM -0.50
- SIFT 0.00
- ClinVar: Uncertain significance (Angelman syndrome-like; Developmental and epileptic encephalopat)
- UniProt: Uncertain significance
- Structural context available