L15P (p.Leu15Pro) variant of CHD2 (O14647)
L15P (p.Leu15Pro) 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 0.42 / 1. The record also includes published literature and structural context.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- rs1060503522
- ClinGen CA16614836
- ClinVar RCV000464197
- TOPMed rs1060503522
- Uncertain significance
- Developmental and epileptic encephalopathy 94
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- AlphaMissense 0.07
- MetaLR 0.42
- MetaSVM -0.62
- PolyPhen-2 0.00
- SIFT 0.03
- MutPred 0.21
- 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)