I74L (p.Ile74Leu) variant of SHMT2 (P34897)
I74L (p.Ile74Leu) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
I74L (p.Ile74Leu) variant details
- p.Ile74Leu
- gnomAD 12-57230989-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.48
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.001)
- Structural context available
- Literature evidence available