D83N (p.Asp83Asn) variant of SCN10A (Q9Y5Y9)
D83N (p.Asp83Asn) in SCN10A (Q9Y5Y9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
D83N (p.Asp83Asn) variant details
- p.Asp83Asn
- cosmic curated COSV10826
- Ensembl rs2064315255
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.80
- MetaLR 0.98
- MetaSVM 1.08
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available