N56N (p.Asn56Asn) variant of SCN8A (Nav1.6)
N56N (p.Asn56Asn) in SCN8A (Nav1.6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
N56N (p.Asn56Asn) variant details
- p.Asn56Asn
- rs1940955072
- gnomAD 12-51662985-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.536
- AlphaMissense 0.92
- MetaLR 0.82
- MetaSVM 0.82
- CADD 12.10
- PolyPhen-2 0.82
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 0.00049)
- Structural context available
- Literature evidence available