G899S (p.Gly899Ser) variant of SCN2A (Nav1.2)
G899S (p.Gly899Ser) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Seizures, benign familial infantile, 3; Developmental a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G899S (p.Gly899Ser) variant details
- p.Gly899Ser
- rs796053120
- ClinGen CA317892
- NCI-TCGA Cosmic COSV5183
- cosmic curated COSV51839
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Seizures, benign familial infantile, 3; Developmental a
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- CADD 27.90
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Seizures, benign familial infantile, 3;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00056)
- 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)