H531P (p.His531Pro) variant of CASK (O14936)
H531P (p.His531Pro) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability, CASK-related, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
H531P (p.His531Pro) variant details
- p.His531Pro
- rs1555981722
- ClinGen CA412995056
- ClinVar RCV000527725
- Ensembl rs1555981722
- Likely pathogenic
- Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- AlphaMissense 1.00
- MetaLR 0.32
- MetaSVM -0.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Likely pathogenic (Intellectual disability, CASK-related, X-linked)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)