Q12H (p.Gln12His) variant of APC (Adenomatous polyposis coli protein)
Q12H (p.Gln12His) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes structural context.
Q12H (p.Gln12His) variant details
- p.Gln12His
- gnomAD rs864622288
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- ESM-1b 0.00
- AlphaMissense 0.96
- EBI: Benign
- UniProt: Benign
- Structural context available