S33L (p.Ser33Leu) variant of CHD2 (O14647)
S33L (p.Ser33Leu) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S33L (p.Ser33Leu) variant details
- p.Ser33Leu
- rs377012056
- ClinGen CA7747442
- ClinVar RCV000814417
- ESP rs377012056
- Uncertain significance
- Developmental and epileptic encephalopathy 94
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.44
- MetaLR 0.75
- MetaSVM 0.68
- CADD 29.50
- PolyPhen-2 0.97
- SIFT 0.04
- 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 2.4e-05)
- Structural context available
- Cited in: CHD2-Related Neurodevelopmental Disorders. (PMID 26677509)