G75R (p.Gly75Arg) variant of SLC6A1 (P30531)
G75R (p.Gly75Arg) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epilepsy with myoclonic atonic seizures; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
G75R (p.Gly75Arg) variant details
- p.Gly75Arg
- rs1064795852
- ClinGen CA16617796
- cosmic curated COSV10959
- ClinVar RCV000486685
- Likely pathogenic
- Epilepsy with myoclonic atonic seizures; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.98
- MetaLR 0.35
- MetaSVM -0.19
- PolyPhen-2 0.93
- SIFT 0.02
- EVE 0.15
- ClinVar: Likely pathogenic (Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)