P4L (p.Pro4Leu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
P4L (p.Pro4Leu) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- gnomAD X-18507107-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- MetaLR 0.40
- MetaSVM -0.13
- CADD 25.20
- PolyPhen-2 0.04
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available