Q36L (p.Gln36Leu) variant of CHD2 (O14647)
Q36L (p.Gln36Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q36L (p.Gln36Leu) variant details
- p.Gln36Leu
- rs1064794584
- ClinGen CA16620037
- ClinVar RCV000479088
- ClinVar RCV000533538
- Uncertain significance
- Developmental and epileptic encephalopathy 94; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.18
- MetaLR 0.47
- MetaSVM -0.38
- CADD 22.40
- SIFT 0.01
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy 94; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: CHD2-Related Neurodevelopmental Disorders. (PMID 26677509)