L42L (p.Leu42Leu) variant of TAFAZZIN (Q16635)
L42L (p.Leu42Leu) in TAFAZZIN (Q16635) 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.
L42L (p.Leu42Leu) variant details
- p.Leu42Leu
- gnomAD X-154412102-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 10.40
- Population evidence available
- Structural context available
- Literature evidence available