P7Q (p.Pro7Gln) variant of SCN9A (Q15858)
P7Q (p.Pro7Gln) 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 0.77 / 1. The record also includes published literature and structural context.
P7Q (p.Pro7Gln) variant details
- p.Pro7Gln
- rs773012423
- NCI-TCGA TCGA novel
- ClinGen CA349096279
- ClinVar RCV002036428
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.43
- MetaLR 0.90
- MetaSVM 1.04
- SIFT 0.03
- MutPred 0.31
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)