K7R (p.Lys7Arg) variant of CHD2 (O14647)
K7R (p.Lys7Arg) 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 0.47 / 1. The record also includes published literature and structural context.
K7R (p.Lys7Arg) variant details
- p.Lys7Arg
- rs2052524601
- ClinGen CA393892365
- ClinVar RCV001222579
- Ensembl rs2052524601
- Uncertain significance
- Developmental and epileptic encephalopathy 94
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.08
- MetaLR 0.50
- MetaSVM -0.19
- PolyPhen-2 0.72
- SIFT 0.00
- MutPred 0.26
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy 94)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CHD2-Related Neurodevelopmental Disorders. (PMID 26677509)