W30M (p.Trp30Met) variant of MMACHC (Q9Y4U1)
W30M (p.Trp30Met) in MMACHC (Q9Y4U1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
W30M (p.Trp30Met) variant details
- p.Trp30Met
- gnomAD 1-45507359-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.717
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available