Q2* (p.Gln2Ter) variant of TRMU (O75648)
Q2* (p.Gln2Ter) in TRMU (O75648) 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.
Q2* (p.Gln2Ter) variant details
- p.Gln2Ter
- rs1464059546
- ClinGen CA411938814
- ClinVar RCV001890520
- ClinVar RCV004571516
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available