D12D (p.Asp12Asp) variant of SCN8A (Q9UQD0)
D12D (p.Asp12Asp) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D12D (p.Asp12Asp) variant details
- p.Asp12Asp
- rs1185519570
- gnomAD 12-51662853-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.271
- AlphaMissense 0.16
- MetaLR 0.62
- MetaSVM -0.26
- CADD 7.38
- PolyPhen-2 0.47
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available