D11N (p.Asp11Asn) variant of CHD8 (Q9HCK8)
D11N (p.Asp11Asn) 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 0.39 / 1.
D11N (p.Asp11Asn) variant details
- p.Asp11Asn
- rs2139540870
- ClinGen CA388891505
- ClinVar RCV001773219
- Ensembl rs2139540870
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- AlphaMissense 0.90
- MetaLR 0.31
- MetaSVM -0.37
- SIFT 0.00
- MutPred 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance