H32R (p.His32Arg) variant of CDKL5 (Cyclin-dependent kinase-like 5)
H32R (p.His32Arg) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H32R (p.His32Arg) variant details
- p.His32Arg
- gnomAD X-18510850-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- MetaLR 0.29
- MetaSVM -0.44
- CADD 25.10
- PolyPhen-2 0.06
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available