E48D (p.Glu48Asp) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E48D (p.Glu48Asp) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- cosmic curated COSV10118
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- MetaLR 0.21
- MetaSVM -0.81
- CADD 26.40
- PolyPhen-2 0.08
- SIFT 0.00
- Population evidence available
- Structural context available