R18R (p.Arg18Arg) variant of MMAA (Q8IVH4)
R18R (p.Arg18Arg) in MMAA (Q8IVH4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R18R (p.Arg18Arg) variant details
- p.Arg18Arg
- rs1560795722
- gnomAD 4-145639191-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.17
- CADD 0.67
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available