L51L (p.Leu51Leu) variant of MMACHC (Q9Y4U1)
L51L (p.Leu51Leu) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L51L (p.Leu51Leu) variant details
- p.Leu51Leu
- rs1643642147
- gnomAD 1-45507427-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.161
- CADD 6.10
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available