T15T (p.Thr15Thr) variant of MMACHC (Q9Y4U1)
T15T (p.Thr15Thr) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T15T (p.Thr15Thr) variant details
- p.Thr15Thr
- rs750623781
- gnomAD 1-45500377-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 12.50
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available