D65E (p.Asp65Glu) variant of SCN9A (Q15858)
D65E (p.Asp65Glu) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D65E (p.Asp65Glu) variant details
- p.Asp65Glu
- rs2468154101
- ClinGen CA349095900
- ClinVar RCV003804030
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- MetaLR 0.77
- MetaSVM 0.48
- CADD 10.30
- PolyPhen-2 0.20
- SIFT 0.00
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)