G54V (p.Gly54Val) variant of CHD8 (Q9HCK8)
G54V (p.Gly54Val) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Intellectual developmental disorder with autism and macrocephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and published literature.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- rs1057519411
- ClinGen CA16044395
- ClinVar RCV000417102
- Ensembl rs1057519411
- Likely benign
- Intellectual developmental disorder with autism and macrocephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 23.90
- PolyPhen-2 0.97
- SIFT 0.07
- ClinVar: Likely benign (Intellectual developmental disorder with autism and macrocephaly)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Cited in: CHD8-Related Neurodevelopmental Disorder with Overgrowth. (PMID 36302072)