V52I (p.Val52Ile) variant of MMACHC (Q9Y4U1)
V52I (p.Val52Ile) 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 and structural context.
V52I (p.Val52Ile) variant details
- p.Val52Ile
- TOPMed rs1468551783
- gnomAD rs1468551783
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.52
- CADD 18.30
- PolyPhen-2 0.10
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available