F13L (p.Phe13Leu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
F13L (p.Phe13Leu) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
F13L (p.Phe13Leu) variant details
- p.Phe13Leu
- gnomAD X-18507135-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- MetaLR 0.31
- MetaSVM -0.38
- CADD 26.30
- PolyPhen-2 0.57
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available