K72K (p.Lys72Lys) variant of MMAA (Q8IVH4)
K72K (p.Lys72Lys) in MMAA (Q8IVH4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K72K (p.Lys72Lys) variant details
- p.Lys72Lys
- rs1228207607
- gnomAD 4-145639355-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 9.26
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available