D10N (p.Asp10Asn) variant of CHD8 (Q9HCK8)
D10N (p.Asp10Asn) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
D10N (p.Asp10Asn) variant details
- p.Asp10Asn
- rs767231058
- ClinGen CA257558747
- ClinVar RCV003388487
- ClinVar RCV003720880
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 25.50
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)