N4S (p.Asn4Ser) variant of CHD2 (O14647)
N4S (p.Asn4Ser) in CHD2 (O14647) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Developmental and epileptic encephalopathy 94. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
N4S (p.Asn4Ser) variant details
- p.Asn4Ser
- rs2052524504
- ClinGen CA393892343
- cosmic curated COSV59122
- ClinVar RCV001349566
- Uncertain significance
- Inborn genetic diseases; Developmental and epileptic encephalopathy 94
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.23
- MetaLR 0.45
- MetaSVM -0.44
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases; Developmental and epileptic encephalopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: CHD2-Related Neurodevelopmental Disorders. (PMID 26677509)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)