A34T (p.Ala34Thr) variant of SCN2A (Q99250)
A34T (p.Ala34Thr) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Developmental and epileptic encephalopathy, 11; Seizure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- rs144814658
- ClinGen CA318063
- ClinVar RCV000189187
- ClinVar RCV000282210
- Conflicting interpretations
- Inborn genetic diseases; Developmental and epileptic encephalopathy, 11; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.73
- ESM-1b 0.57
- AlphaMissense 0.10
- MetaLR 0.94
- MetaSVM 1.07
- CADD 26.70
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Developmental and epileptic encephalopa)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- 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)