N4K (p.Asn4Lys) variant of CHD2 (O14647)
N4K (p.Asn4Lys) in CHD2 (O14647) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy 94. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
N4K (p.Asn4Lys) variant details
- p.Asn4Lys
- rs750955957
- ClinGen CA7747387
- ClinVar RCV001901648
- ExAC rs750955957
- Uncertain significance
- Developmental and epileptic encephalopathy 94
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.29
- MetaLR 0.51
- MetaSVM -0.06
- CADD 23.80
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy 94)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: CHD2-Related Neurodevelopmental Disorders. (PMID 26677509)