F61Y (p.Phe61Tyr) variant of SCN9A (Q15858)
F61Y (p.Phe61Tyr) 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 0.64 / 1. The record also includes published literature and structural context.
F61Y (p.Phe61Tyr) variant details
- p.Phe61Tyr
- rs1698959890
- ClinGen CA349095929
- ClinVar RCV001060250
- ClinVar RCV002553878
- Uncertain significance
- Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- AlphaMissense 0.18
- MetaLR 0.84
- MetaSVM 0.68
- SIFT 0.02
- EVE 0.39
- MutPred 0.51
- 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: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)