E115V (p.Glu115Val) variant of CASK (O14936)
E115V (p.Glu115Val) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Intellectual disability, CASK-related, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
E115V (p.Glu115Val) variant details
- p.Glu115Val
- rs886043662
- ClinGen CA10605796
- ClinVar RCV000347432
- ClinVar RCV000543246
- Uncertain significance
- not provided; Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- AlphaMissense 1.00
- MetaLR 0.42
- MetaSVM -0.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Uncertain significance (not provided; Intellectual disability, CASK-related, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)