N12D (p.Asn12Asp) variant of SCN10A (Q9Y5Y9)
N12D (p.Asn12Asp) in SCN10A (Q9Y5Y9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
N12D (p.Asn12Asp) variant details
- p.Asn12Asp
- gnomAD rs1209324221
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.38
- MetaLR 0.75
- MetaSVM 0.27
- CADD 19.90
- PolyPhen-2 0.32
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available