A24T (p.Ala24Thr) variant of SCN2A (Q99250)
A24T (p.Ala24Thr) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- rs527452801
- ClinGen CA318057
- cosmic curated COSV10730
- ClinVar RCV000713078
- Benign/Likely benign
- Inborn genetic diseases; Developmental and epileptic encephalopathy, 11; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.49
- ESM-1b 0.36
- AlphaMissense 0.11
- MetaLR 0.84
- MetaSVM 0.52
- CADD 22.90
- ClinVar: Benign/Likely benign (Inborn genetic diseases; Developmental and epileptic encephalopa)
- EBI: Benign
- UniProt: Benign
- Most common in the Amish population (allele frequency 1)
- 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)