H145R (p.His145Arg) variant of CASK (O14936)
H145R (p.His145Arg) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, CASK-related, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
H145R (p.His145Arg) variant details
- p.His145Arg
- rs2067197587
- ClinGen CA412999107
- ClinVar RCV001297652
- Ensembl rs2067197587
- Uncertain significance
- Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.36
- CADD 22.00
- PolyPhen-2 0.24
- SIFT 0.10
- ClinVar: Uncertain significance (Intellectual disability, CASK-related, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)