I41F (p.Ile41Phe) variant of CDKL5 (Cyclin-dependent kinase-like 5)
I41F (p.Ile41Phe) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
I41F (p.Ile41Phe) variant details
- p.Ile41Phe
- rs587783071
- ClinGen CA294582
- ClinVar RCV000144733
- Ensembl rs587783071
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- AlphaMissense 1.00
- MetaLR 0.42
- MetaSVM -0.10
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available