Q25* (p.Gln25Ter) variant of PMS2 (P54278)
Q25* (p.Gln25Ter) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
Q25* (p.Gln25Ter) variant details
- p.Gln25Ter
- rs1554306528
- ClinGen CA366745114
- NCI-TCGA Cosmic COSV5615
- cosmic curated COSV56151
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.803
- AlphaMissense 0.16
- MetaLR 0.77
- MetaSVM 0.61
- CADD 42.00
- PolyPhen-2 0.94
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)