E13E (p.Glu13Glu) variant of MMACHC (Q9Y4U1)
E13E (p.Glu13Glu) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E13E (p.Glu13Glu) variant details
- p.Glu13Glu
- rs764626433
- gnomAD 1-45500371-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.264
- CADD 13.60
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available