R179C (p.Arg179Cys) variant of CASK (O14936)
R179C (p.Arg179Cys) in CASK (O14936) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Syndromic X-linked intellectual disability Najm type; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R179C (p.Arg179Cys) variant details
- p.Arg179Cys
- cosmic curated COSV10519
- NCI-TCGA TCGA novel
- Uncertain significance
- Syndromic X-linked intellectual disability Najm type; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.62
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Syndromic X-linked intellectual disability Najm type; not provid)
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.032)
- Structural context available