R907W (p.Arg907Trp) variant of SCN9A (Nav1.7)
R907W (p.Arg907Trp) 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 Inborn genetic diseases; Neuropathy, hereditary sensory and autonomic, type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R907W (p.Arg907Trp) variant details
- p.Arg907Trp
- rs202152511
- ClinGen CA1944214
- cosmic curated COSV10646
- ClinVar RCV000479461
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Neuropathy, hereditary sensory and autonomic, type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- MetaLR 0.98
- MetaSVM 1.06
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Neuropathy, hereditary sensory and auto)
- EBI: Pathogenic (in CIP)
- UniProt: Pathogenic (in CIP)
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)