F39L (p.Phe39Leu) variant of MMACHC (Q9Y4U1)
F39L (p.Phe39Leu) in MMACHC (Q9Y4U1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
F39L (p.Phe39Leu) variant details
- p.Phe39Leu
- rs1643638381
- gnomAD 1-45507387-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 24.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available