S54N (p.Ser54Asn) variant of SCN2A (Q99250)
S54N (p.Ser54Asn) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S54N (p.Ser54Asn) variant details
- p.Ser54Asn
- rs1475242235
- ClinGen CA349010252
- ClinVar RCV003884180
- gnomAD rs1475242235
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.90
- MetaSVM 0.92
- CADD 23.40
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available