Q74* (p.Gln74Ter) variant of MCCC1 (Q96RQ3)
Q74* (p.Gln74Ter) 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 0.85 / 1. The record also includes population frequency data and structural context.
Q74* (p.Gln74Ter) variant details
- p.Gln74Ter
- rs1162953685
- ClinGen CA355321667
- cosmic curated COSV10584
- ClinVar RCV002576507
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.846
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available