L35S (p.Leu35Ser) variant of MMACHC (Q9Y4U1)
L35S (p.Leu35Ser) in MMACHC (Q9Y4U1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L35S (p.Leu35Ser) variant details
- p.Leu35Ser
- gnomAD 1-45507375-TCTTGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 27.60
- Population evidence available
- Structural context available
- Literature evidence available