L4L (p.Leu4Leu) variant of MMAA (Q8IVH4)
L4L (p.Leu4Leu) 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.
L4L (p.Leu4Leu) variant details
- p.Leu4Leu
- rs1277442766
- gnomAD 4-145639151-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 3.77
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available