L34L (p.Leu34Leu) variant of MMAA (Q8IVH4)
L34L (p.Leu34Leu) in MMAA (Q8IVH4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L34L (p.Leu34Leu) variant details
- p.Leu34Leu
- rs146372922
- gnomAD 4-145639241-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0831
- CADD 0.35
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available
- Literature evidence available