L63L (p.Leu63Leu) variant of MMACHC (Q9Y4U1)
L63L (p.Leu63Leu) 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.
L63L (p.Leu63Leu) variant details
- p.Leu63Leu
- rs1643644883
- gnomAD 1-45507463-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 8.30
- Population evidence available
- Structural context available
- Literature evidence available