P42S (p.Pro42Ser) variant of MMACHC (Q9Y4U1)
P42S (p.Pro42Ser) in MMACHC (Q9Y4U1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- rs1643639134
- gnomAD 1-45507396-T-TGAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 24.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available