L59* (p.Leu59Ter) variant of SHMT2 (P34897)
L59* (p.Leu59Ter) in SHMT2 (P34897) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L59* (p.Leu59Ter) variant details
- p.Leu59Ter
- gnomAD 12-57230945-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.71
- CADD 37.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available