L65L (p.Leu65Leu) variant of MMAA (Q8IVH4)
L65L (p.Leu65Leu) in MMAA (Q8IVH4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L65L (p.Leu65Leu) variant details
- p.Leu65Leu
- gnomAD 4-145639334-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.78
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available