T55T (p.Thr55Thr) variant of MMACHC (Q9Y4U1)
T55T (p.Thr55Thr) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T55T (p.Thr55Thr) variant details
- p.Thr55Thr
- rs369883781
- gnomAD 1-45507439-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.18
- CADD 6.74
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available
- Literature evidence available