Q27H (p.Gln27His) variant of SCN2A (Q99250)
Q27H (p.Gln27His) 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 0.59 / 1. The record also includes population frequency data and structural context.
Q27H (p.Gln27His) variant details
- p.Gln27His
- rs1162322343
- ClinGen CA349009893
- ClinVar RCV001768319
- TOPMed rs1162322343
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.55
- ESM-1b 0.73
- AlphaMissense 0.19
- MetaLR 0.88
- MetaSVM 0.82
- CADD 21.30
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available