G70C (p.Gly70Cys) variant of SHMT2 (P34897)
G70C (p.Gly70Cys) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G70C (p.Gly70Cys) variant details
- p.Gly70Cys
- TOPMed rs1169963526
- gnomAD rs1169963526
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.50
- CADD 32.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0019)
- Structural context available