Y677C (p.Tyr677Cys) variant of CHD8 (Q9HCK8)
Y677C (p.Tyr677Cys) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Paediatric disorders. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
Y677C (p.Tyr677Cys) variant details
- p.Tyr677Cys
- Ensembl rs2139495983
- Likely pathogenic
- Paediatric disorders
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Paediatric disorders)
- UniProt: Likely pathogenic
- Population evidence available