P60R (p.Pro60Arg) variant of SCN9A (Q15858)
P60R (p.Pro60Arg) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
P60R (p.Pro60Arg) variant details
- p.Pro60Arg
- rs1574913467
- ClinGen CA349095934
- ClinVar RCV000819635
- Ensembl rs1574913467
- Uncertain significance
- Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 0.88
- MetaLR 0.99
- MetaSVM 1.00
- SIFT 0.00
- EVE 0.91
- MutPred 0.37
- ClinVar: Uncertain significance (Generalized epilepsy with febrile seizures plus, type 7; Neuropa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)