D5E (p.Asp5Glu) variant of CASK (O14936)
D5E (p.Asp5Glu) 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 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D5E (p.Asp5Glu) variant details
- p.Asp5Glu
- rs2148116158
- ClinGen CA413001963
- ClinVar RCV001927591
- Ensembl rs2148116158
- Uncertain significance
- Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.16
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Intellectual disability, CASK-related, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.1e-06)
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.024
- Cited in: CASK Disorders. (PMID 24278995)