A24G (p.Ala24Gly) variant of SCN1A (P35498)
A24G (p.Ala24Gly) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A24G (p.Ala24Gly) variant details
- p.Ala24Gly
- rs1489662325
- ClinGen CA349243351
- ClinVar RCV005271220
- ClinVar RCV006466758
- Uncertain significance
- Early-infantile DEE; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.04
- ClinVar: Uncertain significance (Early-infantile DEE; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)