Q22* (p.Gln22Ter) variant of NRAS (GTPase NRas)
Q22* (p.Gln22Ter) in NRAS (GTPase NRas) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
Q22* (p.Gln22Ter) variant details
- p.Gln22Ter
- rs1178238823
- ClinGen CA341742482
- ClinVar RCV001763293
- ClinVar RCV006616536
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.869
- CADD 39.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available