T35H (p.Thr35His) variant of CDKL5 (Cyclin-dependent kinase-like 5)
T35H (p.Thr35His) in CDKL5 (Cyclin-dependent kinase-like 5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
T35H (p.Thr35His) variant details
- p.Thr35His
- gnomAD X-18564477-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available