S62* (p.Ser62Ter) variant of CHD8 (Q9HCK8)
S62* (p.Ser62Ter) in CHD8 (Q9HCK8) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature.
S62* (p.Ser62Ter) variant details
- p.Ser62Ter
- rs1331026006
- ClinGen CA388890473
- ClinVar RCV000032826
- gnomAD rs1331026006
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 0.07
- MetaLR 0.48
- MetaSVM -0.41
- SIFT 0.04
- MutPred 0.23
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. (PMID 23160955)
- Cited in: CHD8-Related Neurodevelopmental Disorder with Overgrowth. (PMID 36302072)