V27I (p.Val27Ile) variant of CDKL5 (Cyclin-dependent kinase-like 5)
V27I (p.Val27Ile) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V27I (p.Val27Ile) variant details
- p.Val27Ile
- gnomAD X-18510834-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- MetaLR 0.58
- MetaSVM 0.31
- CADD 26.30
- PolyPhen-2 0.71
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available