L20F (p.Leu20Phe) variant of SCN9A (Nav1.7)
L20F (p.Leu20Phe) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Neuropathy, hereditary sensory and autonomic, type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L20F (p.Leu20Phe) variant details
- p.Leu20Phe
- rs200056934
- ClinGen CA1944898
- cosmic curated COSV57604
- ClinVar RCV000538259
- Uncertain significance
- Inborn genetic diseases; Neuropathy, hereditary sensory and autonomic, type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- MetaLR 0.95
- MetaSVM 1.10
- CADD 24.80
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Neuropathy, hereditary sensory and auto)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)