L59F (p.Leu59Phe) variant of SHMT2 (P34897)
L59F (p.Leu59Phe) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L59F (p.Leu59Phe) variant details
- p.Leu59Phe
- gnomAD rs1393127126
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.37
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00027)
- Structural context available