L53L (p.Leu53Leu) variant of MMACHC (Q9Y4U1)
L53L (p.Leu53Leu) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L53L (p.Leu53Leu) variant details
- p.Leu53Leu
- rs371927733
- gnomAD 1-45507433-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 8.71
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available