L16L (p.Leu16Leu) variant of MMACHC (Q9Y4U1)
L16L (p.Leu16Leu) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L16L (p.Leu16Leu) variant details
- p.Leu16Leu
- rs1366120426
- gnomAD 1-45500380-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 14.20
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Literature evidence available