D71A (p.Asp71Ala) variant of SCN8A (Q9UQD0)
D71A (p.Asp71Ala) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
D71A (p.Asp71Ala) variant details
- p.Asp71Ala
- gnomAD 12-51663029-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.91
- MetaSVM 1.05
- CADD 27.20
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available
- Literature evidence available