R28C (p.Arg28Cys) variant of SCN2A (Q99250)
R28C (p.Arg28Cys) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R28C (p.Arg28Cys) variant details
- p.Arg28Cys
- rs200884216
- ClinGen CA318060
- cosmic curated COSV51834
- ClinVar RCV000335873
- Benign/Likely benign
- Inborn genetic diseases; Developmental and epileptic encephalopathy, 11; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.23
- MetaLR 0.98
- MetaSVM 0.76
- CADD 28.20
- ClinVar: Benign/Likely benign (Inborn genetic diseases; Developmental and epileptic encephalopa)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MBUTI population (allele frequency 0.21)
- 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)