Q34* (p.Gln34Ter) variant of MCCC2 (Q9HCC0)
Q34* (p.Gln34Ter) in MCCC2 (Q9HCC0) 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 0.48 / 1. The record also includes population frequency data and structural context.
Q34* (p.Gln34Ter) variant details
- p.Gln34Ter
- rs1413464990
- ClinGen CA360002247
- ClinVar RCV003470071
- TOPMed rs1413464990
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available