G7A (p.Gly7Ala) variant of CDKL5 (Cyclin-dependent kinase-like 5)
G7A (p.Gly7Ala) 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 and structural context.
G7A (p.Gly7Ala) variant details
- p.Gly7Ala
- gnomAD rs1922604717
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- MetaLR 0.26
- MetaSVM -0.48
- CADD 24.50
- PolyPhen-2 0.17
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available