H184N (p.His184Asn) variant of CASK (O14936)
H184N (p.His184Asn) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, CASK-related, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
H184N (p.His184Asn) variant details
- p.His184Asn
- rs2147479461
- ClinGen CA412998484
- ClinVar RCV001369476
- Ensembl rs2147479461
- Uncertain significance
- Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.39
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (Intellectual disability, CASK-related, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)