S47N (p.Ser47Asn) variant of CDKL5 (Cyclin-dependent kinase-like 5)
S47N (p.Ser47Asn) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S47N (p.Ser47Asn) variant details
- p.Ser47Asn
- gnomAD X-18564517-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- MetaLR 0.29
- MetaSVM -0.38
- CADD 24.20
- PolyPhen-2 0.32
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available