E13K (p.Glu13Lys) variant of CASK (O14936)
E13K (p.Glu13Lys) in CASK (O14936) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- ExAC rs769965673
- gnomAD rs769965673
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.33
- AlphaMissense 0.94
- MetaLR 0.24
- MetaSVM -0.56
- CADD 27.30
- PolyPhen-2 0.99
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.4e-05)
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.154