P199L (p.Pro199Leu) variant of CASK (O14936)
P199L (p.Pro199Leu) 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 0.41 / 1. The record also includes published literature and structural context.
P199L (p.Pro199Leu) variant details
- p.Pro199Leu
- rs1569379968
- ClinGen CA412998242
- ClinVar RCV000686262
- Ensembl rs1569379968
- Uncertain significance
- Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.95
- MetaLR 0.26
- MetaSVM -0.60
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.37
- ClinVar: Uncertain significance (Intellectual disability, CASK-related, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)