S54G (p.Ser54Gly) variant of SCN2A (Q99250)
S54G (p.Ser54Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S54G (p.Ser54Gly) variant details
- p.Ser54Gly
- rs557687080
- ClinGen CA59719633
- ClinVar RCV002274735
- gnomAD rs557687080
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.85
- MetaSVM 0.65
- CADD 20.80
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available