S155L (p.Ser155Leu) variant of CASK (O14936)
S155L (p.Ser155Leu) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of FG syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S155L (p.Ser155Leu) variant details
- p.Ser155Leu
- rs2519234687
- cosmic curated COSV10810
- ClinVar RCV004594906
- Likely pathogenic
- FG syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.55
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (FG syndrome 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)