V719M (p.Val719Met) variant of CASK (O14936)
V719M (p.Val719Met) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Syndromic X-linked intellectual disability Najm type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
V719M (p.Val719Met) variant details
- p.Val719Met
- rs12842195
- ClinGen CA412992197
- ClinVar RCV001787238
- Ensembl rs12842195
- Likely pathogenic
- Syndromic X-linked intellectual disability Najm type
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.48
- CADD 35.00
- PolyPhen-2 0.32
- SIFT 0.04
- ClinVar: Likely pathogenic (Syndromic X-linked intellectual disability Najm type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)