Q8H (p.Gln8His) variant of APC (Adenomatous polyposis coli protein)
Q8H (p.Gln8His) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
Q8H (p.Gln8His) variant details
- p.Gln8His
- Ensembl rs2149737469
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- ESM-1b 0.00
- AlphaMissense 0.56
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available