D12N (p.Asp12Asn) variant of SCN2A (Q99250)
D12N (p.Asp12Asn) in SCN2A (Q99250) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
D12N (p.Asp12Asn) variant details
- p.Asp12Asn
- rs1696475965
- ClinGen CA349009717
- ClinVar RCV002319766
- Ensembl rs1696475965
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- ESM-1b 0.04
- AlphaMissense 0.15
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Opposing Effects on Na(V)1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism… (PMID 28256214)