R84I (p.Arg84Ile) variant of MMAA (Q8IVH4)
R84I (p.Arg84Ile) in MMAA (Q8IVH4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R84I (p.Arg84Ile) variant details
- p.Arg84Ile
- TOPMed rs1254511485
- gnomAD rs1254511485
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available