V165I (p.Val165Ile) variant of CASK (O14936)
V165I (p.Val165Ile) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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, published literature, and structural context.
V165I (p.Val165Ile) variant details
- p.Val165Ile
- rs1057521754
- ClinGen CA412998978
- ClinVar RCV001050347
- Ensembl rs1057521754
- Likely benign
- Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.21
- AlphaMissense 0.20
- MetaLR 0.16
- MetaSVM -0.85
- CADD 19.60
- PolyPhen-2 0.15
- ClinVar: Likely benign (Intellectual disability, CASK-related, X-linked)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)