R84K (p.Arg84Lys) variant of MMAA (Q8IVH4)
R84K (p.Arg84Lys) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R84K (p.Arg84Lys) variant details
- p.Arg84Lys
- cosmic curated COSV11380
- TOPMed rs1254511485
- gnomAD rs1254511485
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available