I41T (p.Ile41Thr) variant of CDKL5 (Cyclin-dependent kinase-like 5)
I41T (p.Ile41Thr) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
I41T (p.Ile41Thr) variant details
- p.Ile41Thr
- gnomAD X-18564499-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- MetaLR 0.46
- MetaSVM -0.02
- CADD 24.60
- PolyPhen-2 0.10
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available