P5T (p.Pro5Thr) variant of SCN9A (Q15858)
P5T (p.Pro5Thr) 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; Paroxysmal extreme pain disorder; Channelopathy-associa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P5T (p.Pro5Thr) variant details
- p.Pro5Thr
- rs201999985
- ClinGen CA1944908
- ClinVar RCV001201495
- ClinVar RCV003992461
- Uncertain significance
- Primary erythromelalgia; Paroxysmal extreme pain disorder; Channelopathy-associa
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- MetaLR 0.67
- MetaSVM 0.14
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Primary erythromelalgia; Paroxysmal extreme pain disorder; Chann)
- 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)