Q107R (p.Gln107Arg) variant of CHD8 (Q9HCK8)
Q107R (p.Gln107Arg) 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 0.44 / 1.
Q107R (p.Gln107Arg) variant details
- p.Gln107Arg
- rs2139540187
- ClinGen CA388889500
- ClinVar RCV001763562
- Ensembl rs2139540187
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- AlphaMissense 0.11
- MetaLR 0.41
- MetaSVM -0.59
- SIFT 0.01
- MutPred 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance