L49L (p.Leu49Leu) variant of SHMT2 (P34897)
L49L (p.Leu49Leu) in SHMT2 (P34897) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L49L (p.Leu49Leu) variant details
- p.Leu49Leu
- rs763506557
- gnomAD 12-57230914-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 12.70
- Most common in the HGDP:BEDOUIN population (allele frequency 0.2)
- Structural context available
- Literature evidence available