D141H (p.Asp141His) variant of CASK (O14936)
D141H (p.Asp141His) in CASK (O14936) 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 0.83 / 1. The record also includes population frequency data and structural context.
D141H (p.Asp141His) variant details
- p.Asp141His
- rs2519494557
- ClinGen CA413002793
- ClinVar RCV003443865
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.91
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available