S14A (p.Ser14Ala) variant of CHD2 (O14647)
S14A (p.Ser14Ala) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S14A (p.Ser14Ala) variant details
- p.Ser14Ala
- rs2052525047
- ClinGen CA393892416
- ClinVar RCV001317067
- TOPMed rs2052525047
- Uncertain significance
- Developmental and epileptic encephalopathy 94
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- AlphaMissense 0.08
- MetaLR 0.71
- MetaSVM 0.29
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.14
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy 94)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: CHD2-Related Neurodevelopmental Disorders. (PMID 26677509)