H36R (p.His36Arg) variant of CDKL5 (Cyclin-dependent kinase-like 5)
H36R (p.His36Arg) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
H36R (p.His36Arg) variant details
- p.His36Arg
- ExAC rs763985235
- TOPMed rs763985235
- gnomAD rs763985235
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- MetaLR 0.04
- MetaSVM -1.07
- CADD 22.70
- PolyPhen-2 0.24
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available