V86M (p.Val86Met) variant of MMAA (Q8IVH4)
V86M (p.Val86Met) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
V86M (p.Val86Met) variant details
- p.Val86Met
- TOPMed rs1187767870
- gnomAD rs1187767870
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 24.50
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available