D71D (p.Asp71Asp) variant of SCN8A (Nav1.6)
D71D (p.Asp71Asp) in SCN8A (Nav1.6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D71D (p.Asp71Asp) variant details
- p.Asp71Asp
- rs888638528
- gnomAD 12-51663030-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.476
- AlphaMissense 0.55
- MetaLR 0.74
- MetaSVM 0.24
- CADD 11.40
- PolyPhen-2 0.82
- SIFT 0.06
- Most common in the HGDP:BEDOUIN population (allele frequency 0.06)
- Structural context available
- Literature evidence available