G206D (p.Gly206Asp) variant of CASK (O14936)
G206D (p.Gly206Asp) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Syndromic X-linked intellectual disability Najm type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
G206D (p.Gly206Asp) variant details
- p.Gly206Asp
- rs587783367
- ClinGen CA251022
- ClinVar RCV000145409
- Ensembl rs587783367
- Conflicting interpretations
- Syndromic X-linked intellectual disability Najm type
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Conflicting classifications of pathogenicity (Syndromic X-linked intellectual disability Najm type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)