P85S (p.Pro85Ser) variant of CHD8 (Q9HCK8)
P85S (p.Pro85Ser) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
P85S (p.Pro85Ser) variant details
- p.Pro85Ser
- 1000Genomes rs560968286
- ExAC rs560968286
- TOPMed rs560968286
- gnomAD rs560968286
- Uncertain significance
- not provided
- Missense
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available