H32N (p.His32Asn) variant of CDKL5 (Cyclin-dependent kinase-like 5)
H32N (p.His32Asn) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
H32N (p.His32Asn) variant details
- p.His32Asn
- gnomAD X-18510849-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- MetaLR 0.23
- MetaSVM -0.73
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available