D41G (p.Asp41Gly) variant of SCN9A (Q15858)
D41G (p.Asp41Gly) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
D41G (p.Asp41Gly) variant details
- p.Asp41Gly
- rs368147111
- ClinGen CA1944886
- ClinVar RCV003796802
- ESP rs368147111
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- MetaLR 0.81
- MetaSVM 0.60
- CADD 20.50
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)