A166D (p.Ala166Asp) variant of CASK (O14936)
A166D (p.Ala166Asp) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
A166D (p.Ala166Asp) variant details
- p.Ala166Asp
- rs2519234559
- ClinGen CA412998970
- ClinVar RCV003127303
- Pathogenic
- Developmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.90
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Developmental disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available