E81A (p.Glu81Ala) variant of CHD8 (Q9HCK8)
E81A (p.Glu81Ala) 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 0.34 / 1.
E81A (p.Glu81Ala) variant details
- p.Glu81Ala
- rs1889559004
- ClinGen CA388890067
- ClinVar RCV003573078
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- AlphaMissense 0.08
- MetaLR 0.14
- MetaSVM -0.85
- SIFT 0.01
- MutPred 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance