C146R (p.Cys146Arg) variant of CASK (O14936)
C146R (p.Cys146Arg) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
C146R (p.Cys146Arg) variant details
- p.Cys146Arg
- gnomAD rs1174393974
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.70
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.02
- Population evidence available
- Structural context available