V28L (p.Val28Leu) variant of MMACHC (Q9Y4U1)
V28L (p.Val28Leu) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
V28L (p.Val28Leu) variant details
- p.Val28Leu
- TOPMed rs371937044
- gnomAD rs371937044
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.68
- CADD 28.70
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available