L48L (p.Leu48Leu) variant of MMACHC (Q9Y4U1)
L48L (p.Leu48Leu) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L48L (p.Leu48Leu) variant details
- p.Leu48Leu
- gnomAD 1-45507418-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 8.87
- Population evidence available
- Structural context available
- Literature evidence available