V67I (p.Val67Ile) variant of SLC6A1 (P30531)
V67I (p.Val67Ile) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
V67I (p.Val67Ile) variant details
- p.Val67Ile
- rs1479789276
- ClinGen CA351788389
- NCI-TCGA Cosmic COSV9982
- cosmic curated COSV99822
- Pathogenic
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.49
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Pathogenic (Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)