M63V (p.Met63Val) variant of CDKL5 (Cyclin-dependent kinase-like 5)
M63V (p.Met63Val) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
M63V (p.Met63Val) variant details
- p.Met63Val
- gnomAD X-18575395-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- MetaLR 0.08
- MetaSVM -0.98
- CADD 22.60
- PolyPhen-2 0.12
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available