S7* (p.Ser7Ter) variant of PMS2 (P54278)
S7* (p.Ser7Ter) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S7* (p.Ser7Ter) variant details
- p.Ser7Ter
- rs587780048
- ClinGen CA366745222
- ClinVar RCV003452444
- ClinVar RCV006473213
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)