E33V (p.Glu33Val) variant of MMACHC (Q9Y4U1)
E33V (p.Glu33Val) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E33V (p.Glu33Val) variant details
- p.Glu33Val
- ESP rs367990231
- ExAC rs367990231
- TOPMed rs367990231
- gnomAD rs367990231
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.34
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.19
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available