P144S (p.Pro144Ser) variant of CASK (O14936)
P144S (p.Pro144Ser) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P144S (p.Pro144Ser) variant details
- p.Pro144Ser
- rs2147495797
- ClinGen CA412999115
- ClinVar RCV001879622
- Ensembl rs2147495797
- Uncertain significance
- Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.77
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- 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)