S119R (p.Ser119Arg) variant of CASK (O14936)
S119R (p.Ser119Arg) 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 0.39 / 1. The record also includes population frequency data and structural context.
S119R (p.Ser119Arg) variant details
- p.Ser119Arg
- rs2519495161
- ClinGen CA413002950
- ClinVar RCV003325171
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.39
- CADD 23.90
- 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