P68S (p.Pro68Ser) variant of SCN9A (Q15858)
P68S (p.Pro68Ser) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P68S (p.Pro68Ser) variant details
- p.Pro68Ser
- rs1333258106
- ClinGen CA349095884
- cosmic curated COSV57623
- ClinVar RCV003069556
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- MetaLR 0.78
- MetaSVM 0.41
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)