Q10H (p.Gln10His) variant of SCN9A (Q15858)
Q10H (p.Gln10His) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Q10H (p.Gln10His) variant details
- p.Gln10His
- rs942556763
- ClinGen CA59810469
- ClinVar RCV001053954
- TOPMed rs942556763
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- MetaLR 0.65
- MetaSVM -0.05
- CADD 17.50
- PolyPhen-2 0.31
- SIFT 0.00
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- EBI: Variant of uncertain significance (in PERYTHM)
- UniProt: Uncertain significance (in PERYTHM)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)