D23A (p.Asp23Ala) variant of CHD8 (Q9HCK8)
D23A (p.Asp23Ala) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual developmental disorder with autism and macrocephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature.
D23A (p.Asp23Ala) variant details
- p.Asp23Ala
- rs1889565932
- ClinGen CA388891286
- ClinVar RCV004555784
- Uncertain significance
- Intellectual developmental disorder with autism and macrocephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.36
- MetaLR 0.32
- MetaSVM -0.38
- SIFT 0.00
- MutPred 0.29
- ClinVar: Uncertain significance (Intellectual developmental disorder with autism and macrocephaly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: CHD8-Related Neurodevelopmental Disorder with Overgrowth. (PMID 36302072)