D12G (p.Asp12Gly) variant of SCN8A (Q9UQD0)
D12G (p.Asp12Gly) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
D12G (p.Asp12Gly) variant details
- p.Asp12Gly
- rs1565878368
- ClinGen CA385227442
- ClinVar RCV002318061
- Ensembl rs1565878368
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- ESM-1b 0.18
- AlphaMissense 0.28
- MetaLR 0.84
- MetaSVM 0.81
- PolyPhen-2 0.31
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- 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)