R2333C (p.Arg2333Cys) variant of CHD8 (Q9HCK8)
R2333C (p.Arg2333Cys) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar 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 0.82 / 1. The record also includes population frequency data.
R2333C (p.Arg2333Cys) variant details
- p.Arg2333Cys
- Ensembl rs1887539639
- Likely pathogenic
- Intellectual developmental disorder with autism and macrocephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- CADD 31.00
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Likely pathogenic (Intellectual developmental disorder with autism and macrocephaly)
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)