C17S (p.Cys17Ser) variant of MMACHC (Q9Y4U1)
C17S (p.Cys17Ser) in MMACHC (Q9Y4U1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
C17S (p.Cys17Ser) variant details
- p.Cys17Ser
- rs765960386
- gnomAD 1-45500378-CTA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 29.00
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Literature evidence available