R1242Q (p.Arg1242Gln) variant of CHD8 (Q9HCK8)
R1242Q (p.Arg1242Gln) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual developmental disorder with autism and macrocephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature.
R1242Q (p.Arg1242Gln) variant details
- p.Arg1242Gln
- rs2139467378
- ClinGen CA388899215
- cosmic curated COSV67869
- ClinVar RCV001534619
- Likely pathogenic
- Intellectual developmental disorder with autism and macrocephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Likely pathogenic (Intellectual developmental disorder with autism and macrocephaly)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: CHD8-Related Neurodevelopmental Disorder with Overgrowth. (PMID 36302072)