D43N (p.Asp43Asn) variant of SCN2A (Q99250)
D43N (p.Asp43Asn) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- cosmic curated COSV51840
- gnomAD rs1696482581
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.85
- MetaSVM 0.85
- CADD 22.60
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available