V28M (p.Val28Met) variant of MMACHC (Q9Y4U1)
V28M (p.Val28Met) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
V28M (p.Val28Met) variant details
- p.Val28Met
- TOPMed rs371937044
- gnomAD rs371937044
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.81
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available