I38T (p.Ile38Thr) variant of CDKL5 (Cyclin-dependent kinase-like 5)
I38T (p.Ile38Thr) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I38T (p.Ile38Thr) variant details
- p.Ile38Thr
- gnomAD X-18564490-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- MetaLR 0.20
- MetaSVM -0.69
- CADD 24.60
- PolyPhen-2 0.08
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available