V27E (p.Val27Glu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
V27E (p.Val27Glu) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V27E (p.Val27Glu) variant details
- p.Val27Glu
- cosmic curated COSV66110
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- MetaLR 0.70
- MetaSVM 0.71
- CADD 26.80
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available