D42E (p.Asp42Glu) variant of SCN9A (Q15858)
D42E (p.Asp42Glu) in SCN9A (Q15858) 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 0.53 / 1. The record also includes published literature and structural context.
D42E (p.Asp42Glu) variant details
- p.Asp42Glu
- rs371884028
- ClinGen CA349096050
- ClinVar RCV000647765
- ESP rs371884028
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- AlphaMissense 0.09
- MetaLR 0.71
- MetaSVM -0.15
- SIFT 0.02
- MutPred 0.28
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)