Q42Q (p.Gln42Gln) variant of MMAA (Q8IVH4)
Q42Q (p.Gln42Gln) in MMAA (Q8IVH4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Q42Q (p.Gln42Gln) variant details
- p.Gln42Gln
- rs1727708827
- gnomAD 4-145639265-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.526
- CADD 0.75
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available