A34V (p.Ala34Val) variant of SCN2A (Q99250)
A34V (p.Ala34Val) in SCN2A (Q99250) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- rs1553564177
- ClinGen CA349009970
- ClinVar RCV000622964
- Ensembl rs1553564177
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.73
- ESM-1b 0.96
- AlphaMissense 0.14
- MetaLR 0.95
- MetaSVM 1.09
- CADD 25.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-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)