A40S (p.Ala40Ser) variant of CDKL5 (Cyclin-dependent kinase-like 5)
A40S (p.Ala40Ser) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A40S (p.Ala40Ser) variant details
- p.Ala40Ser
- gnomAD X-18564495-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- MetaLR 0.67
- MetaSVM 0.57
- CADD 25.80
- PolyPhen-2 0.95
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available