M55I (p.Met55Ile) variant of SLC6A1 (P30531)
M55I (p.Met55Ile) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
M55I (p.Met55Ile) variant details
- p.Met55Ile
- rs2470188789
- ClinGen CA351788316
- ClinVar RCV005063122
- Uncertain significance
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.32
- CADD 23.50
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Epilepsy with myoclonic atonic seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)