E72E (p.Glu72Glu) variant of SHMT2 (P34897)
E72E (p.Glu72Glu) in SHMT2 (P34897) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E72E (p.Glu72Glu) variant details
- p.Glu72Glu
- rs1022769651
- gnomAD 12-57230985-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 11.80
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Structural context available
- Literature evidence available