S117P (p.Ser117Pro) variant of CHD8 (Q9HCK8)
S117P (p.Ser117Pro) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Intellectual developmental disorder with autism and macrocephaly; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
S117P (p.Ser117Pro) variant details
- p.Ser117Pro
- rs990945033
- ClinGen CA257558551
- ClinVar RCV003818719
- TOPMed rs990945033
- Conflicting interpretations
- Intellectual developmental disorder with autism and macrocephaly; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 18.90
- PolyPhen-2 0.02
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Intellectual developmental disorder with autism and macrocephaly)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 7.6e-05)