S54S (p.Ser54Ser) variant of MMACHC (Q9Y4U1)
S54S (p.Ser54Ser) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S54S (p.Ser54Ser) variant details
- p.Ser54Ser
- rs750127773
- gnomAD 1-45507436-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 10.70
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available