D41N (p.Asp41Asn) variant of SCN8A (Q9UQD0)
D41N (p.Asp41Asn) in SCN8A (Q9UQD0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- rs759888153
- NCI-TCGA Cosmic COSV6197
- cosmic curated COSV61975
- ExAC rs759888153
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.79
- MetaSVM 0.62
- CADD 23.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:ESN population (allele frequency 0.0097)
- Structural context available