E7S (p.Glu7Ser) variant of MMACHC (Q9Y4U1)
E7S (p.Glu7Ser) in MMACHC (Q9Y4U1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E7S (p.Glu7Ser) variant details
- p.Glu7Ser
- rs1643516622
- gnomAD 1-45500349-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 22.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available