L47L (p.Leu47Leu) variant of MMAA (Q8IVH4)
L47L (p.Leu47Leu) in MMAA (Q8IVH4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L47L (p.Leu47Leu) variant details
- p.Leu47Leu
- rs1302639197
- gnomAD 4-145639280-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 4.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available