P85L (p.Pro85Leu) variant of CHD8 (Q9HCK8)
P85L (p.Pro85Leu) 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 0.72 / 1. The record also includes population frequency data.
P85L (p.Pro85Leu) variant details
- p.Pro85Leu
- rs886043611
- ClinGen CA10605725
- ClinVar RCV000282695
- TOPMed rs886043611
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)