S64N (p.Ser64Asn) variant of CASK (O14936)
S64N (p.Ser64Asn) 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 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S64N (p.Ser64Asn) variant details
- p.Ser64Asn
- rs1556121425
- ClinGen CA413002718
- ClinVar RCV000646770
- Ensembl rs1556121425
- Uncertain significance
- Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.18
- CADD 21.50
- PolyPhen-2 0.04
- SIFT 0.28
- ClinVar: Uncertain significance (Intellectual disability, CASK-related, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CASK PDZ domain domainome 1.0: score 0.0045
- Cited in: CASK Disorders. (PMID 24278995)