L19L (p.Leu19Leu) variant of SHMT2 (P34897)
L19L (p.Leu19Leu) in SHMT2 (P34897) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L19L (p.Leu19Leu) variant details
- p.Leu19Leu
- rs1565769044
- gnomAD 12-57230824-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.499
- CADD 12.80
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available
- Literature evidence available