R82* (p.Arg82Ter) variant of SHMT2 (P34897)
R82* (p.Arg82Ter) in SHMT2 (P34897) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R82* (p.Arg82Ter) variant details
- p.Arg82Ter
- ExAC rs760114958
- TOPMed rs760114958
- gnomAD rs760114958
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 36.00
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available