C1350R (p.Cys1350Arg) variant of SCN9A (Nav1.7)
C1350R (p.Cys1350Arg) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.96 / 1. The record also includes published literature and structural context.
C1350R (p.Cys1350Arg) variant details
- p.Cys1350Arg
- rs1323162486
- ClinGen CA349063982
- ClinVar RCV001375675
- gnomAD rs1323162486
- Pathogenic
- Channelopathy-associated congenital insensitivity to pain, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- SIFT 0.00
- EVE 0.90
- MutPred 0.90
- ClinVar: Pathogenic (Channelopathy-associated congenital insensitivity to pain, autos)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)