Q30* (p.Gln30Ter) variant of PMS2 (P54278)
Q30* (p.Gln30Ter) in PMS2 (P54278) 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 0.69 / 1. The record also includes published literature and structural context.
Q30* (p.Gln30Ter) variant details
- p.Gln30Ter
- rs141577476
- ClinGen CA013182
- ClinVar RCV000131992
- ClinVar RCV000475400
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.81
- MetaLR 0.61
- MetaSVM 0.27
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)