Q22* (p.Gln22Ter) variant of HRAS (GTPase HRas)
Q22* (p.Gln22Ter) in HRAS (GTPase HRas) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMEMS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Q22* (p.Gln22Ter) variant details
- p.Gln22Ter
- rs121917757
- ClinGen CA5779431
- cosmic curated COSV54249
- ClinVar RCV000269895
- Pathogenic
- in CMEMS
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.598
- AlphaMissense 0.97
- MetaLR 0.48
- MetaSVM 0.08
- CADD 40.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in CMEMS)
- UniProt: Pathogenic (in CMEMS)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available