G49S (p.Gly49Ser) variant of SCN2A (Q99250)
G49S (p.Gly49Ser) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Seizures, benign familial infantile, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G49S (p.Gly49Ser) variant details
- p.Gly49Ser
- rs773605666
- ClinGen CA1939555
- ClinVar RCV001943285
- ClinVar RCV002388826
- Uncertain significance
- not provided; Inborn genetic diseases; Seizures, benign familial infantile, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.84
- MetaSVM 0.66
- CADD 21.90
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Seizures, benign familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- 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)