L56L (p.Leu56Leu) variant of MMAA (Q8IVH4)
L56L (p.Leu56Leu) in MMAA (Q8IVH4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L56L (p.Leu56Leu) variant details
- p.Leu56Leu
- rs2126617212
- gnomAD 4-145639305-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 7.36
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available