G69R (p.Gly69Arg) variant of SCN9A (Q15858)
G69R (p.Gly69Arg) 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 0.51 / 1. The record also includes population frequency data and structural context.
G69R (p.Gly69Arg) variant details
- p.Gly69Arg
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- ESP rs201243874
- ExAC rs201243874
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- MetaLR 0.78
- MetaSVM 0.39
- CADD 12.30
- PolyPhen-2 0.11
- 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 2.7e-06)
- Structural context available