R907Q (p.Arg907Gln) variant of SCN9A (Nav1.7)
R907Q (p.Arg907Gln) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Channelopathy-associated congenital insensitivity to pain, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R907Q (p.Arg907Gln) variant details
- p.Arg907Gln
- rs1024152367
- ClinGen CA59794605
- ClinVar RCV001208223
- ClinVar RCV001528173
- Pathogenic/Likely pathogenic
- Channelopathy-associated congenital insensitivity to pain, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- MetaLR 0.97
- MetaSVM 1.10
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Channelopathy-associated congenital insensitivity to pain, autos)
- EBI: Pathogenic (in CIP)
- UniProt: Pathogenic (in CIP)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.024)
- Structural context available
- Cited in: Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations. (PMID 20635406)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)