R130R (p.Arg130Arg) variant of CASK (O14936)
R130R (p.Arg130Arg) in CASK (O14936) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R130R (p.Arg130Arg) variant details
- p.Arg130Arg
- gnomAD X-41523008-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 18.70
- Population evidence available
- Structural context available
- Literature evidence available