G56D (p.Gly56Asp) variant of SCN9A (Q15858)
G56D (p.Gly56Asp) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar 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 0.80 / 1. The record also includes population frequency data and structural context.
G56D (p.Gly56Asp) variant details
- p.Gly56Asp
- ExAC rs767568953
- gnomAD rs767568953
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- MetaLR 0.97
- MetaSVM 1.08
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available