R179H (p.Arg179His) variant of CASK (O14936)
R179H (p.Arg179His) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Syndromic X-linked intellectual disability Najm type; FG syndrome 4; Intellectua. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R179H (p.Arg179His) variant details
- p.Arg179His
- rs1336701127
- ClinGen CA412998534
- ClinVar RCV003624861
- ClinVar RCV005931639
- Uncertain significance
- Syndromic X-linked intellectual disability Najm type; FG syndrome 4; Intellectua
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.46
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Syndromic X-linked intellectual disability Najm type; FG syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)