Y1168N (p.Tyr1168Asn) variant of CHD8 (Q9HCK8)
Y1168N (p.Tyr1168Asn) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Intellectual developmental disorder with autism and macrocephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature.
Y1168N (p.Tyr1168Asn) variant details
- p.Tyr1168Asn
- rs2139469836
- ClinGen CA388900742
- ClinVar RCV002248474
- Ensembl rs2139469836
- Pathogenic
- Intellectual developmental disorder with autism and macrocephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.99
- MetaLR 0.71
- MetaSVM 0.66
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Intellectual developmental disorder with autism and macrocephaly)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language… (PMID 31980904)
- Cited in: CHD8-Related Neurodevelopmental Disorder with Overgrowth. (PMID 36302072)