Q104* (p.Gln104Ter) variant of MCCC1 (Q96RQ3)
Q104* (p.Gln104Ter) in MCCC1 (Q96RQ3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Q104* (p.Gln104Ter) variant details
- p.Gln104Ter
- TOPMed rs1177891822
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available