D40G (p.Asp40Gly) variant of SCN1A (P35498)
D40G (p.Asp40Gly) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D40G (p.Asp40Gly) variant details
- p.Asp40Gly
- rs1684688433
- ClinGen CA349243156
- ClinVar RCV005271134
- ClinVar RCV005415612
- Conflicting interpretations
- Inborn genetic diseases; Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Early-infantile DEE; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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)