L49L (p.Leu49Leu) variant of MMAA (Q8IVH4)
L49L (p.Leu49Leu) in MMAA (Q8IVH4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L49L (p.Leu49Leu) variant details
- p.Leu49Leu
- gnomAD 4-145639286-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 4.64
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available