V142M (p.Val142Met) variant of CASK (O14936)
V142M (p.Val142Met) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V142M (p.Val142Met) variant details
- p.Val142Met
- rs2068557879
- ClinGen CA413002786
- ClinVar RCV003625557
- Ensembl rs2068557879
- Uncertain significance
- Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.25
- CADD 23.30
- PolyPhen-2 0.74
- SIFT 0.04
- 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)