S56F (p.Ser56Phe) variant of SLC6A1 (P30531)
S56F (p.Ser56Phe) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Seizure; Global developmental delay. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
S56F (p.Ser56Phe) variant details
- p.Ser56Phe
- rs1574891108
- ClinGen CA351788324
- ClinVar RCV001003581
- Ensembl rs1574891108
- Likely pathogenic
- Seizure; Global developmental delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Seizure; Global developmental delay)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an… (PMID 34211152)