H7R (p.His7Arg) variant of MMAA (Q8IVH4)
H7R (p.His7Arg) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes structural context.
H7R (p.His7Arg) variant details
- p.His7Arg
- ExAC rs777599101
- TOPMed rs777599101
- gnomAD rs777599101
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.06
- Structural context available