Q105* (p.Gln105Ter) variant of MCCC1 (Q96RQ3)
Q105* (p.Gln105Ter) 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 0.58 / 1. The record also includes population frequency data and structural context.
Q105* (p.Gln105Ter) variant details
- p.Gln105Ter
- cosmic curated COSV10961
- TOPMed rs1163620394
- gnomAD rs1163620394
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available