E5* (p.Glu5Ter) variant of PMS2 (P54278)
E5* (p.Glu5Ter) 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 0.61 / 1. The record also includes population frequency data and structural context.
E5* (p.Glu5Ter) variant details
- p.Glu5Ter
- rs1282857832
- ClinGen CA840354122
- ClinVar RCV001918193
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.61
- AlphaMissense 0.17
- MetaLR 0.60
- MetaSVM -0.45
- CADD 43.00
- PolyPhen-2 0.68
- SIFT 0.07
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available