I5M (p.Ile5Met) variant of CHD8 (Q9HCK8)
I5M (p.Ile5Met) 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 0.37 / 1. The record also includes population frequency data.
I5M (p.Ile5Met) variant details
- p.Ile5Met
- rs1889567529
- ClinGen CA388891620
- ClinVar RCV002008738
- TOPMed rs1889567529
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- AlphaMissense 0.51
- MetaLR 0.18
- MetaSVM -0.84
- SIFT 0.15
- MutPred 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available