Q115* (p.Gln115Ter) variant of MCCC1 (Q96RQ3)
Q115* (p.Gln115Ter) 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 0.63 / 1. The record also includes population frequency data and structural context.
Q115* (p.Gln115Ter) variant details
- p.Gln115Ter
- TOPMed rs920162850
- gnomAD rs920162850
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available