G659D (p.Gly659Asp) variant of CASK (O14936)
G659D (p.Gly659Asp) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Syndromic X-linked intellectual disability Najm type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
G659D (p.Gly659Asp) variant details
- p.Gly659Asp
- rs727505397
- ClinGen CA251215
- ClinVar RCV000157068
- Ensembl rs727505397
- Pathogenic
- Syndromic X-linked intellectual disability Najm type
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 1.00
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.09
- ClinVar: Pathogenic (Syndromic X-linked intellectual disability Najm type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)