D41N (p.Asp41Asn) variant of SCN9A (Nav1.7)
D41N (p.Asp41Asn) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- rs529727269
- ClinGen CA349096061
- ClinVar RCV001317761
- 1000Genomes rs529727269
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- AlphaMissense 0.13
- MetaLR 0.92
- MetaSVM 1.08
- SIFT 0.00
- MutPred 0.33
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)