I13T (p.Ile13Thr) variant of SLC6A1 (P30531)
I13T (p.Ile13Thr) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
I13T (p.Ile13Thr) variant details
- p.Ile13Thr
- rs781163448
- ClinGen CA2254777
- ClinVar RCV005056846
- ExAC rs781163448
- Benign
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.34
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.24
- ClinVar: Benign (Epilepsy with myoclonic atonic seizures)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)