T47T (p.Thr47Thr) variant of MMACHC (Q9Y4U1)
T47T (p.Thr47Thr) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T47T (p.Thr47Thr) variant details
- p.Thr47Thr
- rs936938761
- gnomAD 1-45507415-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0942
- CADD 1.91
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Literature evidence available