A3V (p.Ala3Val) variant of SCN8A (Q9UQD0)
A3V (p.Ala3Val) in SCN8A (Q9UQD0) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs758891499
- ClinGen CA6570983
- NCI-TCGA Cosmic COSV6198
- cosmic curated COSV61981
- Uncertain significance
- Early-infantile DEE; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.37
- MetaLR 0.75
- MetaSVM 0.55
- CADD 23.00
- ClinVar: Uncertain significance (Early-infantile DEE; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:UYGUR 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)