R36G (p.Arg36Gly) variant of SCN2A (Q99250)
R36G (p.Arg36Gly) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R36G (p.Arg36Gly) variant details
- p.Arg36Gly
- rs796053167
- ClinGen CA318066
- ClinVar RCV000189188
- ClinVar RCV000764276
- Uncertain significance
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.79
- MetaSVM 0.09
- CADD 23.40
- ClinVar: Uncertain significance (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)