L63L (p.Leu63Leu) variant of TAFAZZIN (Q16635)
L63L (p.Leu63Leu) in TAFAZZIN (Q16635) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L63L (p.Leu63Leu) variant details
- p.Leu63Leu
- rs1557191113
- gnomAD X-154412165-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.469
- CADD 15.90
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available