L43W (p.Leu43Trp) variant of MMACHC (Q9Y4U1)
L43W (p.Leu43Trp) in MMACHC (Q9Y4U1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L43W (p.Leu43Trp) variant details
- p.Leu43Trp
- gnomAD 1-45507392-CACCTA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 25.70
- Population evidence available
- Structural context available
- Literature evidence available