G70A (p.Gly70Ala) variant of SHMT2 (P34897)
G70A (p.Gly70Ala) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G70A (p.Gly70Ala) variant details
- p.Gly70Ala
- TOPMed rs1427117085
- gnomAD rs1427117085
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.45
- CADD 28.20
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available