E13G (p.Glu13Gly) variant of MMACHC (Q9Y4U1)
E13G (p.Glu13Gly) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E13G (p.Glu13Gly) variant details
- p.Glu13Gly
- gnomAD 1-45500370-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.32
- MetaLR 0.74
- MetaSVM 0.58
- CADD 27.10
- PolyPhen-2 0.35
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available