R130C (p.Arg130Cys) variant of CASK (O14936)
R130C (p.Arg130Cys) 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; Intellectual disability, CASK-related, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R130C (p.Arg130Cys) variant details
- p.Arg130Cys
- TOPMed rs1411378502
- Uncertain significance
- not provided; Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.40
- CADD 29.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Intellectual disability, CASK-related, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available