P56L (p.Pro56Leu) variant of MMACHC (Q9Y4U1)
P56L (p.Pro56Leu) in MMACHC (Q9Y4U1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P56L (p.Pro56Leu) variant details
- p.Pro56Leu
- gnomAD 1-45507439-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 26.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available