Q25K (p.Gln25Lys) variant of SCN9A (Q15858)
Q25K (p.Gln25Lys) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q25K (p.Gln25Lys) variant details
- p.Gln25Lys
- rs200709311
- ClinGen CA1944894
- ClinVar RCV001133440
- ClinVar RCV001133441
- Uncertain significance
- Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- MetaLR 0.56
- MetaSVM -0.12
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (Primary erythromelalgia; Neuropathy, hereditary sensory and auto)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)