E72* (p.Glu72Ter) variant of SHMT2 (P34897)
E72* (p.Glu72Ter) in SHMT2 (P34897) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
E72* (p.Glu72Ter) variant details
- p.Glu72Ter
- gnomAD rs1171974393
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.85
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 0.00024)
- Structural context available