P68S (p.Pro68Ser) variant of CHD8 (Q9HCK8)
P68S (p.Pro68Ser) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
P68S (p.Pro68Ser) variant details
- p.Pro68Ser
- rs1049466654
- ClinGen CA257558668
- ClinVar RCV002306084
- TOPMed rs1049466654
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 20.50
- PolyPhen-2 0.65
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.9e-05)