E33G (p.Glu33Gly) variant of MMACHC (Q9Y4U1)
E33G (p.Glu33Gly) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E33G (p.Glu33Gly) variant details
- p.Glu33Gly
- ESP rs367990231
- ExAC rs367990231
- TOPMed rs367990231
- gnomAD rs367990231
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.28
- CADD 21.60
- PolyPhen-2 0.11
- SIFT 0.26
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available