L17L (p.Leu17Leu) variant of MMAA (Q8IVH4)
L17L (p.Leu17Leu) in MMAA (Q8IVH4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L17L (p.Leu17Leu) variant details
- p.Leu17Leu
- rs1287869365
- gnomAD 4-145639190-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0896
- CADD 1.26
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available