L63S (p.Leu63Ser) variant of MMACHC (Q9Y4U1)
L63S (p.Leu63Ser) 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.
L63S (p.Leu63Ser) variant details
- p.Leu63Ser
- rs1343936481
- gnomAD 1-45507458-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 26.90
- Population evidence available
- Structural context available
- Literature evidence available