G89E (p.Gly89Glu) variant of SHMT2 (P34897)
G89E (p.Gly89Glu) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
G89E (p.Gly89Glu) variant details
- p.Gly89Glu
- gnomAD rs1488946349
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.77
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00086)
- Structural context available