L19G (p.Leu19Gly) variant of SHMT2 (P34897)
L19G (p.Leu19Gly) in SHMT2 (P34897) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L19G (p.Leu19Gly) variant details
- p.Leu19Gly
- rs1233392204
- gnomAD 12-57230823-GCT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 29.10
- Most common in the HGDP:LAHU population (allele frequency 0.1)
- Structural context available
- Literature evidence available